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http://www.ncbi.nlm.nih.gov/pubmed/17644068
1. Biochem Biophys Res Commun. 2007 Sep 14;361(1):146-50. doi: 10.1016/j.bbrc.2007.06.183. Epub 2007 Jul 17. Polarization of endosomal SNX27 in migrating and tumor-engaged natural killer cells. MacNeil AJ(1), Pohajdak B. Author information: (1)Department of Biology, Dalhousie University, 1355 Oxford Street, Halifax, NS, Canada B3H 4J1. Polarization is a critical mechanism for the proper functioning of many cell types. For lymphocytes, it is essential in a variety of processes, including migration from the blood to other tissue sites and vice versa. In NK cells and CTLs, the cytotoxic granule delivery mechanism requires polarization for granule movement to the immunological synapse (IS), in killing tumor and virus-infected cells. Recently, it has become apparent that endosomes are also involved in the cytotoxic mechanism. Using an in vitro conjugation approach, we show that in NK-92 cells, endosomal Sorting Nexin 27 (SNX27) polarizes to the IS during tumor cell engagement in a distinct compartment adjacent to the cytotoxic granules. We also show that SNX27 polarizes to the apical membrane, opposite the uropod, during NK cell migration. These previously unreported results indicate that SNX27 is a participant in NK cell polarization, as a mediator or target of the mechanism. DOI: 10.1016/j.bbrc.2007.06.183 PMID: 17644068 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22539860
1. J Neurosci. 2012 Apr 25;32(17):6000-13. doi: 10.1523/JNEUROSCI.5347-11.2012. The density of EAAC1 (EAAT3) glutamate transporters expressed by neurons in the mammalian CNS. Holmseth S(1), Dehnes Y, Huang YH, Follin-Arbelet VV, Grutle NJ, Mylonakou MN, Plachez C, Zhou Y, Furness DN, Bergles DE, Lehre KP, Danbolt NC. Author information: (1)Centre for Molecular Biology and Neuroscience, Department of Anatomy, Institute of Basic Medical Sciences, University of Oslo, N-0317 Oslo, Norway. The extracellular levels of excitatory amino acids are kept low by the action of the glutamate transporters. Glutamate/aspartate transporter (GLAST) and glutamate transporter-1 (GLT-1) are the most abundant subtypes and are essential for the functioning of the mammalian CNS, but the contribution of the EAAC1 subtype in the clearance of synaptic glutamate has remained controversial, because the density of this transporter in different tissues has not been determined. We used purified EAAC1 protein as a standard during immunoblotting to measure the concentration of EAAC1 in different CNS regions. The highest EAAC1 levels were found in the young adult rat hippocampus. Here, the concentration of EAAC1 was ∼0.013 mg/g tissue (∼130 molecules μm⁻³), 100 times lower than that of GLT-1. Unlike GLT-1 expression, which increases in parallel with circuit formation, only minor changes in the concentration of EAAC1 were observed from E18 to adulthood. In hippocampal slices, photolysis of MNI-D-aspartate (4-methoxy-7-nitroindolinyl-D-aspartate) failed to elicit EAAC1-mediated transporter currents in CA1 pyramidal neurons, and D-aspartate uptake was not detected electron microscopically in spines. Using EAAC1 knock-out mice as negative controls to establish antibody specificity, we show that these relatively small amounts of EAAC1 protein are widely distributed in somata and dendrites of all hippocampal neurons. These findings raise new questions about how so few transporters can influence the activation of NMDA receptors at excitatory synapses. DOI: 10.1523/JNEUROSCI.5347-11.2012 PMCID: PMC4031369 PMID: 22539860 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21300787
1. Mol Cell Biol. 2011 Apr;31(8):1734-47. doi: 10.1128/MCB.01044-10. Epub 2011 Feb 7. Deficiency of sorting nexin 27 (SNX27) leads to growth retardation and elevated levels of N-methyl-D-aspartate receptor 2C (NR2C). Cai L(1), Loo LS, Atlashkin V, Hanson BJ, Hong W. Author information: (1)Institute of Molecular and Cell Biology, 61 Biopolis Drive, Singapore 138673, Singapore. Phox (PX) domain-containing sorting nexins (SNXs) are emerging as important regulators of endocytic trafficking. Sorting nexin 27 (SNX27) is unique, as it contains a PDZ (Psd-95/Dlg/ZO1) domain. We show here that SNX27 is primarily targeted to the early endosome by interaction of its PX domain with PtdIns(3)P. Although targeted ablation of the SNX27 gene in mice did not significantly affect growth and survival during embryonic development, SNX27 plays an essential role in postnatal growth and survival. N-Methyl-d-aspartate (NMDA) receptor 2C (NR2C) was identified as a novel SNX27-interacting protein, and this interaction is mediated by the PDZ domain of SNX27 and the C-terminal PDZ-binding motif of NR2C. Increased NR2C expression levels, together with impaired NR2C endocytosis in SNX27(-/-) neurons, indicate that SNX27 may function to regulate endocytosis and/or endosomal sorting of NR2C. This is consistent with a role of SNX27 as a general regulator for sorting of membrane proteins containing a PDZ-binding motif, and its absence may alter the trafficking of these proteins, leading to growth and survival defects. DOI: 10.1128/MCB.01044-10 PMCID: PMC3126336 PMID: 21300787 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/25196144
1. J Neurochem. 2014 Dec;131(5):573-81. doi: 10.1111/jnc.12942. Epub 2014 Sep 26. Loss of SIRT4 decreases GLT-1-dependent glutamate uptake and increases sensitivity to kainic acid. Shih J(1), Liu L, Mason A, Higashimori H, Donmez G. Author information: (1)Department of Neuroscience, Tufts University School of Medicine, Boston, Massachusetts, USA; Neuroscience Program, Tufts University Sackler School of Biomedical Sciences, Boston, Massachusetts, USA. Glutamate transport is a critical process in the brain that maintains low extracellular levels of glutamate to allow for efficient neurotransmission and prevent excitotoxicity. Loss of glutamate transport function is implicated in epilepsy, traumatic brain injury, and amyotrophic lateral sclerosis. It remains unclear whether or not glutamate transport can be modulated in these disease conditions to improve outcome. Here, we show that sirtuin (SIRT)4, a mitochondrial sirtuin, is up-regulated in response to treatment with the potent excitotoxin kainic acid. Loss of SIRT4 leads to a more severe reaction to kainic acid and decreased glutamate transporter expression and function in the brain. Together, these results indicate a critical and novel stress response role for SIRT4 in promoting proper glutamate transport capacity and protecting against excitotoxicity. © 2014 International Society for Neurochemistry. DOI: 10.1111/jnc.12942 PMID: 25196144 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17351151
1. Mol Cell Proteomics. 2007 Jun;6(6):1073-87. doi: 10.1074/mcp.M700047-MCP200. Epub 2007 Mar 9. Proteomics identification of sorting nexin 27 as a diacylglycerol kinase zeta-associated protein: new diacylglycerol kinase roles in endocytic recycling. Rincón E(1), Santos T, Avila-Flores A, Albar JP, Lalioti V, Lei C, Hong W, Mérida I. Author information: (1)Department of Immunology and Oncology, Centro Nacional de Biotecnología/CSIC, E-28049 Madrid, Spain. Diacylglycerol kinase zeta is a member of the diacylglycerol kinase family of enzymes, which generate phosphatidic acid through diacylglycerol phosphorylation. In addition to the catalytic and cysteine-rich domains found in all diacylglycerol kinases, diacylglycerol kinase zeta has a MARCKS domain as well as a C-terminal region containing four ankyrin repeats and a PDZ-binding motif. Previous reports demonstrated that diacylglycerol kinase zeta interaction with several proteins is an important mechanism for modulating the localization and activity of this enzyme. Here we used a proteomics approach to search for novel diacylglycerol kinase zeta-interacting proteins and identified sorting nexin 27 (SNX27), a recently described member of a protein family involved in intracellular trafficking, which has a PDZ domain in addition to the phox homology domain characteristic of SNX proteins. Co-immunoprecipitation studies and two-hybrid analysis confirmed physical, PDZ-dependent association between SNX27 and diacylglycerol kinase zeta. Because diacylglycerol kinase zeta is expressed abundantly in T lymphocytes, we characterized SNX27 expression and subcellular localization in these cells. SNX27 co-localized with transferrin receptor-positive vesicles, pointing to its participation in T cell endocytic recycling. Expression of deletion mutants revealed that in addition to the phox homology domain the SNX27 PDZ domain contributed to vesicle localization of this protein, suggesting that interaction with diacylglycerol kinase zeta regulates SNX27 localization. Analysis of cells with RNA interference-mediated knockdown of diacylglycerol kinase zeta showed accelerated transferrin receptor exit from the lymphocyte endocytic recycling compartment back to the plasma membrane, further confirming diacylglycerol kinase zeta-dependent control of vesicle trafficking. These data support a previously unreported role for diacylglycerol kinase zeta in the modulation of membrane trafficking, which may also help to define SNX27 function. DOI: 10.1074/mcp.M700047-MCP200 PMID: 17351151 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17828261
1. Nat Neurosci. 2007 Oct;10(10):1249-59. doi: 10.1038/nn1953. Epub 2007 Sep 2. A unique sorting nexin regulates trafficking of potassium channels via a PDZ domain interaction. Lunn ML(1), Nassirpour R, Arrabit C, Tan J, McLeod I, Arias CM, Sawchenko PE, Yates JR 3rd, Slesinger PA. Author information: (1)Peptide Biology Laboratory, The Salk Institute for Biological Studies, 10010 North Torrey Pines Rd., La Jolla, California 92037, USA. G protein-gated potassium (Kir3) channels are important for controlling neuronal excitability in the brain. Using a proteomics approach, we have identified a unique rodent intracellular protein, sorting nexin 27 (SNX27), which regulates the trafficking of Kir3 channels. Like most sorting nexins, SNX27 possesses a functional PX domain that selectively binds the membrane phospholipid phosphatidylinositol-3-phosphate (PI3P) and is important for trafficking to the early endosome. SNX27, however, is the only sorting nexin to contain a PDZ domain. This PDZ domain discriminates between channels with similar class I PDZ-binding motifs, associating with the C-terminal end of Kir3.3 and Kir3.2c (-ESKV), but not with that of Kir2.1 (-ESEI) or Kv1.4 (-ETDV). SNX27 promotes the endosomal movement of Kir3 channels, leading to reduced surface expression, increased degradation and smaller Kir3 potassium currents. The regulation of endosomal trafficking via sorting nexins reveals a previously unknown mechanism for controlling potassium channel surface expression. DOI: 10.1038/nn1953 PMID: 17828261 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21602791
1. Nat Cell Biol. 2011 Jun;13(6):715-21. doi: 10.1038/ncb2252. Epub 2011 May 22. SNX27 mediates retromer tubule entry and endosome-to-plasma membrane trafficking of signalling receptors. Temkin P(1), Lauffer B, Jäger S, Cimermancic P, Krogan NJ, von Zastrow M. Author information: (1)Department of Psychiatry, University of California at San Francisco, San Francisco, California 94158, USA. Endocytic sorting of signalling receptors between recycling and degradative pathways is a key cellular process controlling the surface complement of receptors and, accordingly, the cell's ability to respond to specific extracellular stimuli. The β2 adrenergic receptor (β2AR) is a prototypical seven-transmembrane signalling receptor that recycles rapidly and efficiently to the plasma membrane after ligand-induced endocytosis. β2AR recycling is dependent on the receptor's carboxy-terminal PDZ ligand and Rab4. This active sorting process is required for functional resensitization of β2AR-mediated signalling. Here we show that sequence-directed sorting occurs at the level of entry into retromer tubules and that retromer tubules are associated with Rab4. Furthermore, we show that sorting nexin 27 (SNX27) serves as an essential adaptor protein linking β2ARs to the retromer tubule. SNX27 does not seem to directly interact with the retromer core complex, but does interact with the retromer-associated Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex. The present results identify a role for retromer in endocytic trafficking of signalling receptors, in regulating a receptor-linked signalling pathway, and in mediating direct endosome-to-plasma membrane traffic. DOI: 10.1038/ncb2252 PMCID: PMC3113693 PMID: 21602791 [Indexed for MEDLINE] Conflict of interest statement: Competing Interest Statement The authors of this paper declare no competing financial interests.
http://www.ncbi.nlm.nih.gov/pubmed/9011758
1. Brain Res Mol Brain Res. 1996 Feb;36(1):189-92. doi: 10.1016/0169-328x(95)00297-6. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues. Nakayama T(1), Kawakami H, Tanaka K, Nakamura S. Author information: (1)Third Department of Internal Medicine, Hiroshima University, School of Medicine, Japan. We compared the expression of mRNAs for three human glutamate transporter subtypes in human central nervous system (CNS) and other organs by Northern blot analysis. hGLT-1 and hGLuT-1 mRNAs were most abundantly expressed in the brain, while hEAAC1 mRNA expression (3.8 kb and 2,4 kb) was strongest in peripheral organs. All subtype mRNAs were expressed throughout the CNS with hGLT-1 predominant in frontal lobe, striatum and limbic areas, and hGluT-1 predominant in cerebellum. DOI: 10.1016/0169-328x(95)00297-6 PMID: 9011758 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23313319
1. Neurobiol Dis. 2013 Jun;54:206-15. doi: 10.1016/j.nbd.2012.12.013. Epub 2013 Jan 8. Astrocyte GRK2 as a novel regulator of glutamate transport and brain damage. Nijboer CH(1), Heijnen CJ, Degos V, Willemen HL, Gressens P, Kavelaars A. Author information: (1)Laboratory of Neuroimmunology and Developmental Origins of Disease (NIDOD), University Medical Center Utrecht, KC03.068.0, Lundlaan 6, 3584 EA, Utrecht, The Netherlands. C.Nijboer@umcutrecht.nl G protein-coupled receptor (GPCR) kinase 2 (GRK2) regulates cellular signaling via desensitization of GPCRs and by direct interaction with intracellular signaling molecules. We recently described that ischemic brain injury decreases cerebral GRK2 levels. Here we studied the effect of astrocyte GRK2-deficiency on neonatal brain damage in vivo. As astrocytes protect neurons by taking up glutamate via plasma-membrane transporters, we also studied the effect of GRK2 on the localization of the GLutamate ASpartate Transporter (GLAST). Brain damage induced by hypoxia-ischemia was significantly reduced in GFAP-GRK2(+/-) mice, which have a 60% reduction in astrocyte GRK2 compared to GFAP-WT littermates. In addition, GRK2-deficient astrocytes have higher plasma-membrane levels of GLAST and an increased capacity to take up glutamate in vitro. In search for the mechanism by which GRK2 regulates GLAST expression, we observed increased GFAP levels in GRK2-deficient astrocytes. GFAP and the cytoskeletal protein ezrin are known regulators of GLAST localization. In line with this evidence, GRK2-deficiency reduced phosphorylation of the GRK2 substrate ezrin and enforced plasma-membrane GLAST association after stimulation with the group I mGluR-agonist DHPG. When ezrin was silenced, the enhanced plasma-membrane GLAST association in DHPG-exposed GRK2-deficient astrocytes was prevented. In conclusion, we identified a novel role of astrocyte GRK2 in regulating plasma-membrane GLAST localization via an ezrin-dependent route. We demonstrate that the 60% reduction in astrocyte GRK2 protein level that is observed in GFAP-GRK2(+/-) mice is sufficient to significantly reduce neonatal ischemic brain damage. These findings underline the critical role of GRK2 regulation in astrocytes for dampening the extent of brain damage after ischemia. Copyright © 2013 Elsevier Inc. All rights reserved. DOI: 10.1016/j.nbd.2012.12.013 PMCID: PMC3628971 PMID: 23313319 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/26099588
1. Infect Immun. 2015 Sep;83(9):3555-67. doi: 10.1128/IAI.00654-15. Epub 2015 Jun 22. Multiple Functions of Glutamate Uptake via Meningococcal GltT-GltM L-Glutamate ABC Transporter in Neisseria meningitidis Internalization into Human Brain Microvascular Endothelial Cells. Takahashi H(1), Yanagisawa T(2), Kim KS(3), Yokoyama S(2), Ohnishi M(4). Author information: (1)Department of Bacteriology I, National Institute of Infectious Diseases, Tokyo, Japan hideyuki@nih.go.jp. (2)RIKEN Structural Biology Laboratory, Tsurumi, Yokohama, Japan. (3)Division of Pediatric Infectious Diseases, Department of Pediatrics, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA. (4)Department of Bacteriology I, National Institute of Infectious Diseases, Tokyo, Japan. We previously reported that Neisseria meningitidis internalization into human brain microvasocular endothelial cells (HBMEC) was triggered by the influx of extracellular L-glutamate via the GltT-GltM L-glutamate ABC transporter, but the underlying mechanism remained unclear. We found that the ΔgltT ΔgltM invasion defect in assay medium (AM) was alleviated in AM without 10% fetal bovine serum (FBS) [AM(-S)]. The alleviation disappeared again in AM(-S) supplemented with 500 μM glutamate. Glutamate uptake by the ΔgltT ΔgltM mutant was less efficient than that by the wild-type strain, but only upon HBMEC infection. We also observed that both GltT-GltM-dependent invasion and accumulation of ezrin, a key membrane-cytoskeleton linker, were more pronounced when N. meningitidis formed larger colonies on HBMEC under physiological glutamate conditions. These results suggested that GltT-GltM-dependent meningococcal internalization into HBMEC might be induced by the reduced environmental glutamate concentration upon infection. Furthermore, we found that the amount of glutathione within the ΔgltT ΔgltM mutant was much lower than that within the wild-type N. meningitidis strain only upon HBMEC infection and was correlated with intracellular survival. Considering that the L-glutamate obtained via GltT-GltM is utilized as a nutrient in host cells, l-glutamate uptake via GltT-GltM plays multiple roles in N. meningitidis internalization into HBMEC. Copyright © 2015, American Society for Microbiology. All Rights Reserved. DOI: 10.1128/IAI.00654-15 PMCID: PMC4534661 PMID: 26099588 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/15265858
1. J Biol Chem. 2004 Sep 17;279(38):39505-12. doi: 10.1074/jbc.M408038200. Epub 2004 Jul 20. A trimeric quaternary structure is conserved in bacterial and human glutamate transporters. Gendreau S(1), Voswinkel S, Torres-Salazar D, Lang N, Heidtmann H, Detro-Dassen S, Schmalzing G, Hidalgo P, Fahlke C. Author information: (1)Department of Molecular Pharmacology, Rheinisch-Westfälische Technische Hochschule Aachen, 52057 Aachen, Germany. Neuronal and glial glutamate transporters play a central role in the termination of synaptic transmission and in extracellular glutamate homeostasis in the mammalian central nervous system. They are known to be multimers; however, the number of subunits forming a functional transporter is controversial. We studied the subunit stoichiometry of two distantly related glutamate transporters, the human glial glutamate transporter hEAAT2 and a bacterial glutamate transporter from Escherichia coli, ecgltP. Using blue native polyacrylamide gel electrophoresis, analysis of concatenated transporters, and chemical cross-linking, we demonstrated that human and prokaryotic glutamate transporters expressed in Xenopus laevis oocytes or in mammalian cells are assembled as trimers composed of three identical subunits. In an inducible mammalian cell line expressing hEAAT2 the glutamate uptake currents correlate to the amount of trimeric transporters. Overexpression and purification of ecgltP in E. coli resulted in a homogenous population of trimeric transporters that were functional after reconstitution in lipid vesicles. Our results indicate that an evolutionarily conserved trimeric quaternary structure represents the sole native and functional state of glutamate transporters. DOI: 10.1074/jbc.M408038200 PMID: 15265858 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23161123
1. Electrophoresis. 2013 Feb;34(3):397-400. doi: 10.1002/elps.201200380. Epub 2013 Jan 3. Modified silver staining in 2DE improves protein detection even at extremely low sample concentration. Liew YK(1), Neela V, Hamat RA, Nordin SA, Chong PP. Author information: (1)Department of Medical Microbiology and Parasitology, Universiti Putra Malaysia, Serdang, Malaysia. The typical concentration of protein loaded varies from 0.13 to 1.40 μg/μL for a classical silver staining method in 2DE gel. Here, we present a simple modified classical silver staining method by modifying the silver impregnation and development reaction steps. This modified method detects the protein spots at extremely low loaded concentrations, ranging from 0.0048 to 0.0480 μg/μL. We recommend this modified silver staining as an excellent method for the limited biological samples used for silver-stained 2DE analysis. Altogether, the protocol takes close to two days from first dimension separation to second dimension separation, followed by silver staining, scanning, and analysis. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim. DOI: 10.1002/elps.201200380 PMID: 23161123 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/9614067
1. J Biol Chem. 1998 Jun 12;273(24):14698-706. doi: 10.1074/jbc.273.24.14698. Identification of functional domains of the human glutamate transporters EAAT1 and EAAT2. Mitrovic AD(1), Amara SG, Johnston GA, Vandenberg RJ. Author information: (1)Department of Pharmacology, University of Sydney, New South Wales 2006, Australia. Glutamate transporters serve the important function of mediating removal of glutamate released at excitatory synapses and maintaining extracellular concentrations below excitotoxic levels. Excitatory amino acid transporter subtypes EAAT1 and EAAT2 have a high degree of sequence homology and similar predicted topology and yet display a number of functional differences. Several recombinant chimeric transporters were generated to identify domains that contribute to functional differences between EAAT1 and EAAT2. Wild-type transporters and chimeric transporters were expressed in Xenopus laevis oocytes, and electrogenic transport was studied under voltage clamp conditions. The differential sensitivity of EAAT1 and EAAT2 to transport blockers, kainate, threo-3-methylglutamate, and (2S, 4R)-4-methylglutamate as well as L-serine-O-sulfate transport and chloride permeability were employed to characterize chimeric transporters. One particular region, transmembrane domains 9 and 10, plays an important role in defining these functional differences. The intracellular carboxyl-terminal region may also play a minor role in conferring an effect on chloride permeability. This study provides important insight into the identification of functional domains that determine differences among glutamate transporter subtypes. DOI: 10.1074/jbc.273.24.14698 PMID: 9614067 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23536889
1. PLoS One. 2013;8(3):e59800. doi: 10.1371/journal.pone.0059800. Epub 2013 Mar 25. Ras-association domain of sorting Nexin 27 is critical for regulating expression of GIRK potassium channels. Balana B(1), Bahima L, Bodhinathan K, Taura JJ, Taylor NM, Nettleton MY, Ciruela F, Slesinger PA. Author information: (1)Peptide Biology Laboratories, The Salk Institute for Biological Studies, La Jolla, California, United States of America. G protein-gated inwardly rectifying potassium (GIRK) channels play an important role in regulating neuronal excitability. Sorting nexin 27b (SNX27b), which reduces surface expression of GIRK channels through a PDZ domain interaction, contains a putative Ras-association (RA) domain with unknown function. Deleting the RA domain in SNX27b (SNX27b-ΔRA) prevents the down-regulation of GIRK2c/GIRK3 channels. Similarly, a point mutation (K305A) in the RA domain disrupts regulation of GIRK2c/GIRK3 channels and reduces H-Ras binding in vitro. Finally, the dominant-negative H-Ras (S17N) occludes the SNX27b-dependent decrease in surface expression of GIRK2c/GIRK3 channels. Thus, the presence of a functional RA domain and the interaction with Ras-like G proteins comprise a novel mechanism for modulating SNX27b control of GIRK channel surface expression and cellular excitability. DOI: 10.1371/journal.pone.0059800 PMCID: PMC3607560 PMID: 23536889 [Indexed for MEDLINE] Conflict of interest statement: Competing Interests: The authors have declared that no competing interests exist.
http://www.ncbi.nlm.nih.gov/pubmed/20855639
1. Am J Clin Pathol. 2010 Oct;134(4):586-93. doi: 10.1309/AJCP55KQYWSGZRKC. Combination of an aptamer probe to CD4 and antibodies for multicolored cell phenotyping. Zhang P(1), Zhao N, Zeng Z, Chang CC, Zu Y. Author information: (1)Department of Pathology, The Methodist Hospital, Houston, TX 77030, USA. Comment in Am J Clin Pathol. 2010 Oct;134(4):529-31. doi: 10.1309/AJCPFU4CG2WGJJKS. Aptamers have emerged as a new class of small molecule ligands. These short, single-stranded oligonucleotides can be produced through simple chemical synthesis, making them easier and less costly to produce than antibodies. We synthesized an RNA aptamer probe specific for human CD4 using a reported sequence and investigated the potential use of this probe in cell phenotyping. Studies in cultured cells demonstrated that the synthetic CD4 aptamer had a nearly identical cell-binding specificity as the standard CD4 antibody. Fluorescent microscopy confirmed that the aptamer and antibody generated the same CD4 staining pattern in cells without competing with one another. Multicolored flow cytometry analysis revealed that the CD4 aptamer could be combined with antibodies to phenotype cells from bone marrow, lymph nodes, and pleural fluid, suggesting that the aptamer probe has value for clinical use. DOI: 10.1309/AJCP55KQYWSGZRKC PMID: 20855639 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18708826
1. Cardiol Rev. 2008 Sep-Oct;16(5):250-9. doi: 10.1097/CRD.0b013e3181804336. Investigational antiplatelet drugs for the treatment and prevention of coronary artery disease. Zeidner JF(1), Frishman WH, Lerner RG. Author information: (1)Department of Medicine, Johns Hopkins School of Medicine/Johns Hopkins Hospital, Baltimore, Maryland, USA. Antiplatelet therapy for the prevention and treatment of coronary artery disease (CAD) has undergone dramatic changes and improvements. Aspirin remains the first-line antiplatelet drug for clinical use. Newer platelet inhibitors such as the thienopyridine agents, ticlopidine and clopidogrel, have also been shown to be effective in treating CAD. There have been ongoing efforts to evaluate newer antiplatelet drugs, with the potential to improve clinical efficacy and safety. Some of the more promising antiplatelet agents include new adenosine diphosphate receptor antagonists such as prasugrel, cangrelor, and ticagrelor (AZD6140). In addition, a new thromboxane receptor antagonist, NCX-4016, a newly discovered protease-activated receptor antagonist that targets thrombin-induced platelet aggregation, and anti-von Willebrand factor aptamers show tremendous promise in refining antiplatelet therapy by targeting different receptors and molecules. DOI: 10.1097/CRD.0b013e3181804336 PMID: 18708826 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20733053
1. J Cell Biol. 2010 Aug 23;190(4):565-74. doi: 10.1083/jcb.201004060. SNX27 mediates PDZ-directed sorting from endosomes to the plasma membrane. Lauffer BE(1), Melero C, Temkin P, Lei C, Hong W, Kortemme T, von Zastrow M. Author information: (1)Program in Pharmaceutical Sciences and Pharmacogenomics, University of California-San Francisco, San Francisco, CA 94158, USA. Postsynaptic density 95/discs large/zonus occludens-1 (PDZ) domain-interacting motifs, in addition to their well-established roles in protein scaffolding at the cell surface, are proposed to act as cis-acting determinants directing the molecular sorting of transmembrane cargo from endosomes to the plasma membrane. This hypothesis requires the existence of a specific trans-acting PDZ protein that mediates the proposed sorting operation in the endosome membrane. Here, we show that sorting nexin 27 (SNX27) is required for efficient PDZ-directed recycling of the beta(2)-adrenoreceptor (beta(2)AR) from early endosomes. SNX27 mediates this sorting function when expressed at endogenous levels, and its recycling activity requires both PDZ domain-dependent recognition of the beta(2)AR cytoplasmic tail and Phox homology (PX) domain-dependent association with the endosome membrane. These results identify a discrete role of SNX27 in PDZ-directed recycling of a physiologically important signaling receptor, and extend the concept of cargo-specific molecular sorting in the recycling pathway. DOI: 10.1083/jcb.201004060 PMCID: PMC2928020 PMID: 20733053 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21926430
1. J Biol Chem. 2011 Nov 11;286(45):39403-16. doi: 10.1074/jbc.M111.260802. Epub 2011 Sep 18. Sorting nexin 27 protein regulates trafficking of a p21-activated kinase (PAK) interacting exchange factor (β-Pix)-G protein-coupled receptor kinase interacting protein (GIT) complex via a PDZ domain interaction. Valdes JL(1), Tang J, McDermott MI, Kuo JC, Zimmerman SP, Wincovitch SM, Waterman CM, Milgram SL, Playford MP. Author information: (1)Cell Biology and Physiology Center, NHLBI, National Institutes of Health, Bethesda, Maryland 20982, USA. Sorting nexin 27 (SNX27) is a 62-kDa protein localized to early endosomes and known to regulate the intracellular trafficking of ion channels and receptors. In addition to a PX domain, SNX27 is the only sorting family member that contains a PDZ domain. To identify novel SNX27-PDZ binding partners, we performed a proteomic screen in mouse principal kidney cortical collecting duct cells using a GST-SNX27 fusion construct as bait. We found that β-Pix (p21-activated kinase-interactive exchange factor), a guanine nucleotide exchange factor for the Rho family of small GTPases known to regulate cell motility directly interacted with SNX27. The association of β-Pix and SNX27 is specific for β-Pix isoforms terminating in the type-1 PDZ binding motif (ETNL). In the same screen we also identified Git1/2 as a potential SNX27 interacting protein. The interaction between SNX27 and Git1/2 is indirect and mediated by β-Pix. Furthermore, we show recruitment of the β-Pix·Git complex to endosomal sites in a SNX27-dependent manner. Finally, migration assays revealed that depletion of SNX27 from HeLa and mouse principal kidney cortical collecting duct cells significantly decreases cell motility. We propose a model by which SNX27 regulates trafficking of β-Pix to focal adhesions and thereby influences cell motility. DOI: 10.1074/jbc.M111.260802 PMCID: PMC3234764 PMID: 21926430 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22427946
1. PLoS One. 2012;7(3):e33058. doi: 10.1371/journal.pone.0033058. Epub 2012 Mar 13. Position of the third Na+ site in the aspartate transporter GltPh and the human glutamate transporter, EAAT1. Bastug T(1), Heinzelmann G, Kuyucak S, Salim M, Vandenberg RJ, Ryan RM. Author information: (1)School of Physics, The University of Sydney, Sydney, Australia. Glutamate transport via the human excitatory amino acid transporters is coupled to the co-transport of three Na(+) ions, one H(+) and the counter-transport of one K(+) ion. Transport by an archaeal homologue of the human glutamate transporters, Glt(Ph), whose three dimensional structure is known is also coupled to three Na(+) ions but only two Na(+) ion binding sites have been observed in the crystal structure of Glt(Ph). In order to fully utilize the Glt(Ph) structure in functional studies of the human glutamate transporters, it is essential to understand the transport mechanism of Glt(Ph) and accurately determine the number and location of Na(+) ions coupled to transport. Several sites have been proposed for the binding of a third Na(+) ion from electrostatic calculations and molecular dynamics simulations. In this study, we have performed detailed free energy simulations for Glt(Ph) and reveal a new site for the third Na(+) ion involving the side chains of Threonine 92, Serine 93, Asparagine 310, Aspartate 312, and the backbone of Tyrosine 89. We have also studied the transport properties of alanine mutants of the coordinating residues Threonine 92 and Serine 93 in Glt(Ph), and the corresponding residues in a human glutamate transporter, EAAT1. The mutant transporters have reduced affinity for Na(+) compared to their wild type counterparts. These results confirm that Threonine 92 and Serine 93 are involved in the coordination of the third Na(+) ion in Glt(Ph) and EAAT1. DOI: 10.1371/journal.pone.0033058 PMCID: PMC3302783 PMID: 22427946 [Indexed for MEDLINE] Conflict of interest statement: Competing Interests: The authors have declared that no competing interests exist.
http://www.ncbi.nlm.nih.gov/pubmed/23977684
1. Electrophoresis. 2013 Jul;34(13):1972-5. doi: 10.1002/elps.201300087. Staining of proteins for 2D SDS-PAGE using Coomassie Blue--speed versus sensitivity? Májek P(1), Riedelová-Reicheltová Z, Suttnar J, Dyr JE. Author information: (1)Institute of Hematology and Blood Transfusion, Prague, Czech Republic. pavel.majek@uhkt.cz Several new fast staining protocols for the visualization of proteins separated by SDS-PAGE utilizing Coomassie Blue staining (CBS) have been described in literature. The sensitivity of a newly designed staining protocol is usually estimated using 1D SDS-PAGE of serially diluted protein samples. However, this approach is not predictive and satisfactory for 2D SDS-PAGE capable of resolving hundreds or thousands of different proteins in a single analysis. In this work, a new fast staining protocol recently introduced by Dong et al. (PLoS One 2011, 6, e22394) was compared to colloidal CBS. The number of detectable spots in 2D SDS-PAGE of identical blood plasma samples in repeated runs was chosen as a sensitivity criterion. Further, the influence of gel boiling on the subsequent protein identification by MS was investigated. In spite of its advantages, the staining protocol according to Dong et al. (PLoS One 2011, 6, e22394) seems to be less sensitive than colloidal Coomassie staining when the number of detected spots is the evaluating criterion. No obvious influence of gel boiling on the protein identification was observed. DOI: 10.1002/elps.201300087 PMID: 23977684 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23738000
1. PLoS One. 2013 May 30;8(5):e64781. doi: 10.1371/journal.pone.0064781. Print 2013. An RNA aptamer provides a novel approach for the induction of apoptosis by targeting the HPV16 E7 oncoprotein. Nicol C(1), Cesur Ö, Forrest S, Belyaeva TA, Bunka DH, Blair GE, Stonehouse NJ. Author information: (1)School of Molecular and Cellular Biology, Faculty of Biological Sciences and Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds, United Kingdom. BACKGROUND: Human papillomavirus 16 (HPV16) is a high-risk DNA tumour virus, which is a major causative agent of cervical cancer. Cellular transformation is associated with deregulated expression of the E6 and E7 oncogenes. E7 has been shown to bind a number of cellular proteins, including the cell cycle control protein pRb. In this study, RNA aptamers (small, single-stranded oligonucleotides selected for high-affinity binding) to HPV16 E7 were employed as molecular tools to further investigate these protein-protein interactions. METHODOLOGY/PRINCIPAL FINDINGS: This study is focused on one aptamer (termed A2). Transfection of this molecule into HPV16-transformed cells resulted in inhibition of cell proliferation (shown using real-time cell electronic sensing and MTT assays) due to the induction of apoptosis (as demonstrated by Annexin V/propidium iodide staining). GST-pull down and bead binding assays were used to demonstrate that the binding of A2 required N-terminal residues of E7 known to be involved in interaction with the cell cycle control protein, pRb. Using a similar approach, A2 was shown to disrupt the interaction between E7 and pRb in vitro. Furthermore, transfection of HPV16-transformed cells with A2 appeared to result in the loss of E7 and rise in pRb levels, as observed by immunoblotting. CONCLUSIONS/SIGNIFICANCE: This paper includes the first characterisation of the effects of an E7 RNA aptamer in a cell line derived from a cervical carcinoma. Transfection of cells with A2 was correlated with the loss of E7 and the induction of apoptosis. Aptamers specific for a number of cellular and viral proteins have been documented previously; one aptamer (Macugen) is approved for clinical use and several others are in clinical trials. In addition to its role as a molecular tool, A2 could have further applications in the future. DOI: 10.1371/journal.pone.0064781 PMCID: PMC3667794 PMID: 23738000 [Indexed for MEDLINE] Conflict of interest statement: Competing Interests: The authors have declared that no competing interests exist.
http://www.ncbi.nlm.nih.gov/pubmed/24136520
1. Methods Mol Biol. 2014;1072:141-54. doi: 10.1007/978-1-62703-631-3_11. 2DE analysis of forest tree proteins using fluorescent labels and multiplexing. Renaut J(1), Leclercq C, Planchon S. Author information: (1)Department of Environment and Agrobiotechnologies (EVA), Proteomics Platform, Centre de Recherche Public-Gabriel Lippmann, Belvaux, Luxembourg. Although proteomists working with gel-free methods are considering the gels as coming from the past, proteomics based on gels has still a lot of opportunities to offer and acquisition of images on which thousands of spots may be resolved is still largely performed. Nowadays, two-dimensional electrophoresis remains a powerful tool to explore the plant proteome and to unravel changes in protein abundance between samples. Some weak points can be pointed out, as for any method, as for example the lack of reproducibility, or the detection of low-abundance proteins. The use of the technique called "difference gel electrophoresis" or "DIGE" can help to overcome or at least to reduce these inconveniences. DIGE requires the labelling of proteins by fluorochromes prior to their separation on 2DE gels. This technique may be applied to a wide array of plant stress studies, among others to trees. Accurate quantitative results can then be obtained and proteins presenting an interest in the studied stress are subsequently subjected to an enzymatic digestion (usually with trypsin) and identified using electrospray ionization, matrix-assisted laser desorption/ionization-time-of-flight-MS, and/or tandem MS. DOI: 10.1007/978-1-62703-631-3_11 PMID: 24136520 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21651459
1. Expert Opin Investig Drugs. 2011 Aug;20(8):1073-86. doi: 10.1517/13543784.2011.592139. Epub 2011 Jun 9. Opioid modulators for alcohol dependence. Hillemacher T(1), Heberlein A, Muschler MA, Bleich S, Frieling H. Author information: (1)Hannover Medical School, Center for Addiction Research (CARe) , Department for Psychiatry , Socialpsychiatry and Psychotherapy, Carl-Neuberg-Str. Germany. hillemacher.thomas@mh-hannover.de INTRODUCTION: Studies have shown that opioid antagonists like naltrexone are efficient in reducing heavy drinking. The neurobiological mechanism by which opioid modulators affect drinking behavior is based on the strong connection between the endogenous opioid system, the dopamine system and the influence of the CNS stress response. AREAS COVERED: This review provides an overview of the pathophysiological role of the opioid system in alcohol dependence and the neurobiological mechanisms of possible pharmacological interventions. An extensive Medline and Internet research was performed to retrieve information on existing and currently investigated opioid modulators. The findings were assessed critically and interpreted with regard to an individualized therapy for alcohol dependence. EXPERT OPINION: The opioid system is of crucial importance in the genesis and maintenance of alcohol dependence. Naltrexone- and to a lesser extent nalmefene- is an agent that modulates opioidergic transmission in the CNS and it shows a limited but well-studied efficacy in treating alcohol dependence. Several agents (LY2196044, ALKS-29, ALKS-33) that are currently undergoing Phase II and Phase III studies are of interest but first their efficacy must be proved in clinical practice. DOI: 10.1517/13543784.2011.592139 PMID: 21651459 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/24105977
1. Mol Pharmacol. 2014 Jan;85(1):1-10. doi: 10.1124/mol.113.089755. Epub 2013 Oct 8. Valproic acid is a novel activator of AMP-activated protein kinase and decreases liver mass, hepatic fat accumulation, and serum glucose in obese mice. Avery LB(1), Bumpus NN. Author information: (1)Department of Pharmacology and Molecular Sciences, The Johns Hopkins University School of Medicine, Baltimore, Maryland. Valproic acid (VPA) is a widely prescribed anticonvulsant for the treatment of epilepsy. Here we demonstrate that VPA is a novel activator of AMP-activated protein kinase (AMPK), a key regulator of cellular metabolism, using primary mouse and human hepatocytes. Incubation of primary mouse hepatocytes with VPA resulted in increased levels of phosphorylated AMPK and acetyl-CoA carboxylase (ACC). This finding was recapitulated using primary human hepatocytes. Pretreatment of mouse hepatocytes with a small-molecule inhibitor of AMPK, Compound C (6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine), abrogated the phosphorylation of ACC following treatment with VPA. The cytochrome P450 inhibitor 1-aminobenzotriazole blocked the VPA-stimulated phosphorylation of AMPK, suggesting a requirement for biotransformation of VPA. In line with this, treatment of hepatocytes with metabolites of VPA resulted in increased phosphorylation of AMPK/ACC as compared with VPA. Treatment of ob/ob mice with VPA for 14 days resulted in decreased liver masses, hepatic fat accumulation, and serum glucose. These results paralleled those observed in mice treated with metformin. In addition, a targeted mass spectrometry-based metabolomics assay revealed several small molecules that were differentially abundant in the serum of ob/ob mice treated with VPA as compared with vehicle-treated mice. These studies are the first to establish VPA and its metabolites as in vitro activators of AMPK. DOI: 10.1124/mol.113.089755 PMCID: PMC3868906 PMID: 24105977 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21291870
1. Biochem Pharmacol. 2011 Apr 15;81(8):996-1003. doi: 10.1016/j.bcp.2011.01.015. Epub 2011 Feb 1. Opioid-like compound exerts anti-fibrotic activity via decreased hepatic stellate cell activation and inflammation. Day SA(1), Lakner AM, Moore CC, Yen MH, Clemens MG, Wu ES, Schrum LW. Author information: (1)Department of Biology, University of North Carolina at Charlotte, Charlotte, NC 28223, USA. Hepatic fibrosis is characterized by excess type I collagen deposition and exacerbated inflammatory response. Naltrexone, an opioid receptor antagonist used for treating alcohol abuse, attenuates hepatocellular injury in fibrotic animal models, which can be accompanied by deleterious side effects. Additionally, opioid neurotransmission is upregulated in patients with inflammatory liver disease. Several derivatives of Naltrexone, Nalmefene (Nal) and JKB-119, exert immunomodulatory activity; however, unlike Nal, JKB-119 does not show significant opioid receptor antagonism. To delineate the potential hepatoprotective effects of these compounds, we investigated if JKB-119 and Nal could modulate activation of hepatic stellate cells (HSCs), primary effector cells that secrete type I collagen and inflammatory mediators during liver injury. Our results demonstrated that Nal or JKB-119 treatment decreased smooth muscle α-actin, a marker of HSC activation, mRNA and protein expression. Despite decreased collagen mRNA expression, both compounds increased intracellular collagen protein expression; however, inhibition of collagen secretion was observed. To address a possible mechanism for suppressed collagen secretion or retention of intracellular collagen, endoplasmic (ER) protein expression and matrix metalloproteinase (MMP) activity were examined. While no change in ER protein expression (Grp78, PDI, Hsp47) was observed, MMP13 mRNA expression was dramatically increased. In an acute LPS inflammatory injury animal model, JKB-119 treatment decreased liver injury (ALT), plasma TNFα and PMN liver infiltration. Overall, these results suggest that JKB-119 can directly inhibit HSC activation attributed to anti-inflammatory activity and may, therefore, attenuate inflammation associated with HSC activation and liver disease. Copyright © 2011 Elsevier Inc. All rights reserved. DOI: 10.1016/j.bcp.2011.01.015 PMID: 21291870 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/9780908
1. J Craniofac Surg. 1998 Sep;9(5):417-22. doi: 10.1097/00001665-199809000-00003. Bilambdoid and posterior sagittal synostosis: the Mercedes Benz syndrome. Moore MH(1), Abbott AH, Netherway DJ, Menard R, Hanieh A. Author information: (1)Australian Craniofacial Unit, North Adelaide, Australia. A consistent pattern of craniosynostosis in the sagittal and bilateral lambdoid sutures is described in three patients. The external cranial ridging associated with fusion of these sutures produces a characteristic triradiate, or "Mercedes Benz," appearance to the posterior skull. Locally marked growth restriction is evident in the posterior fossa with compensatory secondary expansion of the anterior fossa manifesting a degree of frontal bossing which mimics bicoronal synostosis. Although this appearance could lead to inadvertent surgery in the frontal region, attention to the occipital region with wide early suture excision and vault shaping is indicated. DOI: 10.1097/00001665-199809000-00003 PMID: 9780908 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20463739
1. Nature. 2010 May 13;465(7295):227-30. doi: 10.1038/nature08999. Induction of tumour immunity by targeted inhibition of nonsense-mediated mRNA decay. Pastor F(1), Kolonias D, Giangrande PH, Gilboa E. Author information: (1)Department of Microbiology & Immunology, Dodson Interdisciplinary Immunotherapy Institute, University of Miami Miller School of Medicine Miami, Florida 33134, USA. The main reason why tumours are not controlled by the immune system is that, unlike pathogens, they do not express potent tumour rejection antigens (TRAs). Tumour vaccination aims at stimulating a systemic immune response targeted to, mostly weak, antigens expressed in the disseminated tumour lesions. Main challenges in developing effective vaccination protocols are the identification of potent and broadly expressed TRAs and effective adjuvants to stimulate a robust and durable immune response. Here we describe an alternative approach in which the expression of new, and thereby potent, antigens are induced in tumour cells by inhibiting nonsense-mediated messenger RNA decay (NMD). Small interfering RNA (siRNA)-mediated inhibition of NMD in tumour cells led to the expression of new antigenic determinants and their immune-mediated rejection. In subcutaneous and metastatic tumour models, tumour-targeted delivery of NMD factor-specific siRNAs conjugated to oligonucleotide aptamer ligands led to significant inhibition of tumour growth that was superior to that of vaccination with granulocyte-macrophage colony-stimulating factor (GM-CSF)-expressing irradiated tumour cells, and could be further enhanced by co-stimulation. Tumour-targeted NMD inhibition forms the basis of a simple, broadly useful, and clinically feasible approach to enhance the antigenicity of disseminated tumours leading to their immune recognition and rejection. The cell-free chemically synthesized oligonucleotide backbone of aptamer-siRNAs reduces the risk of immunogenicity and enhances the feasibility of generating reagents suitable for clinical use. DOI: 10.1038/nature08999 PMCID: PMC3107067 PMID: 20463739 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/25242375
1. Comput Biol Chem. 2014 Dec;53 Pt A:84-96. doi: 10.1016/j.compbiolchem.2014.08.013. Epub 2014 Sep 16. Orphan and gene related CpG Islands follow power-law-like distributions in several genomes: evidence of function-related and taxonomy-related modes of distribution. Tsiagkas G(1), Nikolaou C(2), Almirantis Y(3). Author information: (1)Institute of Biosciences and Applications, National Center for Scientific Research "Demokritos", 15310 Athens, Greece. (2)Computational Genomics Group, Department of Biology, University of Crete, 71409 Heraklion, Greece. (3)Institute of Biosciences and Applications, National Center for Scientific Research "Demokritos", 15310 Athens, Greece. Electronic address: yalmir@bio.demokritos.gr. CpG Islands (CGIs) are compositionally defined short genomic stretches, which have been studied in the human, mouse, chicken and later in several other genomes. Initially, they were assigned the role of transcriptional regulation of protein-coding genes, especially the house-keeping ones, while more recently there is found evidence that they are involved in several other functions as well, which might include regulation of the expression of RNA genes, DNA replication etc. Here, an investigation of their distributional characteristics in a variety of genomes is undertaken for both whole CGI populations as well as for CGI subsets that lie away from known genes (gene-unrelated or "orphan" CGIs). In both cases power-law-like linearity in double logarithmic scale is found. An evolutionary model, initially put forward for the explanation of a similar pattern found in gene populations is implemented. It includes segmental duplication events and eliminations of most of the duplicated CGIs, while a moderate rate of non-duplicated CGI eliminations is also applied in some cases. Simulations reproduce all the main features of the observed inter-CGI chromosomal size distributions. Our results on power-law-like linearity found in orphan CGI populations suggest that the observed distributional pattern is independent of the analogous pattern that protein coding segments were reported to follow. The power-law-like patterns in the genomic distributions of CGIs described herein are found to be compatible with several other features of the composition, abundance or functional role of CGIs reported in the current literature across several genomes, on the basis of the proposed evolutionary model. Copyright © 2014 Elsevier Ltd. All rights reserved. DOI: 10.1016/j.compbiolchem.2014.08.013 PMID: 25242375 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19396832
1. Am J Med Genet A. 2009 May;149A(5):1024-32. doi: 10.1002/ajmg.a.32782. Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? Hing AV(1), Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML. Author information: (1)Department of Pediatrics, University of Washington, Seattle, Washington 98195-6320, USA. ahing@u.washington.edu Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings. DOI: 10.1002/ajmg.a.32782 PMID: 19396832 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23889921
1. CNS Neurosci Ther. 2013 Nov;19(11):871-81. doi: 10.1111/cns.12144. Epub 2013 Jul 27. Antiepileptics topiramate and levetiracetam alleviate behavioral deficits and reduce neuropathology in APPswe/PS1dE9 transgenic mice. Shi JQ(1), Wang BR, Tian YY, Xu J, Gao L, Zhao SL, Jiang T, Xie HG, Zhang YD. Author information: (1)Department of Neurology, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, China. BACKGROUND: The close relationship between epileptic seizure and Alzheimer's disease (AD) has been demonstrated in the past decade. Valproic acid, a traditional first-line antiepileptic drug, exerted protective effects in transgenic models of AD. It remains uncertain whether new antiepileptic drugs could reverse neuropathology and behavioral deficits in AD transgenic mice. AIMS: APPswe/PS1dE9 transgenic mice were used in this study, which over express the Swedish mutation of amyloid precursor protein together with presenilin 1 deleted in exon 9. 7-month-old APPswe/PS1dE9 transgenic mice were treated daily with 20 mg/kg topiramate (TPM) and 50 mg/kg levetiracetam (LEV) for 30 days by intraperitoneal injection to explore the effects of TPM and LEV on the neuropathology and behavioral deficits. RESULTS: The results indicated that TPM and LEV alleviated behavioral deficits and reduced amyloid plaques in APPswe/PS1dE9 transgenic mice. TPM and LEV increased Aβ clearance and up-regulated Aβ transport and autophagic degradation. TPM and LEV inhibited Aβ generation and suppressed γ-secretase activity. TPM and LEV inhibited GSK-3β activation and increased the activation of AMPK/Akt activation. Further, TPM and LEV inhibited histone deacetylase activity in vivo. CONCLUSIONS: Therefore, TPM and LEV might have the potential to treat AD effectively in patient care. © 2013 John Wiley & Sons Ltd. DOI: 10.1111/cns.12144 PMCID: PMC6493595 PMID: 23889921 [Indexed for MEDLINE] Conflict of interest statement: The authors declare no conflict of interest
http://www.ncbi.nlm.nih.gov/pubmed/20048621
1. Plast Reconstr Surg. 2010 Jan;125(1):299-304. doi: 10.1097/PRS.0b013e3181c2a6aa. Mercedes Benz pattern craniosynostosis. Rhodes JL(1), Kolar JC, Fearon JA. Author information: (1)Richmond, Va.; and Dallas, Texas From the Division of Plastic Surgery, Virginia Commonwealth University Medical Center, and the Children's Specialty Center and the Craniofacial Center, Medical City Children's Hospital. BACKGROUND: The complex craniosynostoses, which include all nonsyndromic multiple sutural fusions, represent a small fraction of patients presenting with craniosynostosis. Among these are a trisutural fusion, dubbed the "Mercedes Benz pattern," involving the sagittal and both lambdoid sutures. The purpose of this report is to review the authors' series of this unusual form of craniosynostosis, to identify associated anomalies, and to assess treatment outcomes. METHODS: The authors conducted a retrospective clinical outcome assessment of all patients presenting with Mercedes Benz pattern craniosynostosis. Growth was assessed by direct anthropologic measurements, and significance was assessed by the t test. RESULTS: Over a 17-year period, 11 of 802 patients presenting with craniosynostosis were identified with Mercedes Benz pattern synostosis (1.4 percent). Three patients had additional sutural involvement and two had identifiable genetic syndromes. Seven of 11 (64 percent) had cerebellar tonsillar herniation on preoperative imaging, and four symptomatic patients (36 percent) have required Chiari decompressions. Three patients have required more than one remodeling procedure. Serial postoperative anthropologic measurements identified progressive brachycephaly, with diminished growth in both head circumference and skull length (mean follow-up, 3.75 years). Cognitive function was grossly normal, except for one syndromic patient. CONCLUSIONS: Despite fusion of the sagittal suture, the surgical treatment for Mercedes Benz pattern craniosynostosis should include skull lengthening, not reduction. The authors' findings for diminished postoperative growth suggest that an overcorrection be considered. Fourth or fifth sutural involvement correlated with additional corrections. Given the observed high incidence for symptomatic cerebellar tonsillar herniation, routine magnetic resonance evaluations are recommended for affected individuals. DOI: 10.1097/PRS.0b013e3181c2a6aa PMID: 20048621 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22352726
1. Curr Pharm Biotechnol. 2012 Aug;13(10):1924-34. doi: 10.2174/138920112802273137. Antidote control of aptamer therapeutics: the road to a safer class of drug agents. Bompiani KM(1), Woodruff RS, Becker RC, Nimjee SM, Sullenger BA. Author information: (1)Department of Surgery, Duke University School of Medicine, Durham, NC 27710, USA. Aptamers, or nucleic acid ligands, have gained clinical interest over the past 20 years due to their unique characteristics, which are a combination of the best facets of small molecules and antibodies. The high binding affinity and specificity of aptamers allows for isolation of an artificial ligand for theoretically any therapeutic target of interest. Chemical manipulations of aptamers also allow for fine-tuning of their bioavailability, and antidote control greatly expands their clinical use. Here we review the various methods of antidote control of aptamer therapeutics--matched oligonucleotide antidotes and universal antidotes. We also describe the development, recent progress, and potential future therapeutic applications of these types of aptamer-antidote pairs. DOI: 10.2174/138920112802273137 PMID: 22352726 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/24198064
1. Immunol Res. 2013 Dec;57(1-3):44-51. doi: 10.1007/s12026-013-8442-7. Expression of new antigens on tumor cells by inhibiting nonsense-mediated mRNA decay. Gilboa E(1). Author information: (1)Department of Microbiology and Immunology, Dodson Interdisciplinary Immunotherapy Institute, Sylvester Comprehensive Cancer Center, Miller School of Medicine, University of Miami, Miami, FL, 33136, USA, egilboa@med.miami.edu. The main reason why tumors are not controlled by the immune system of the cancer patient is that tumors do not express potent tumor antigens that can be recognized by the immune system as "foreign." The current focus in developing immune-based modalities is to potentiate an immune response against the existing, albeit weak, antigens expressed in the tumor. An alternative approach is to express new, and hence potent, antigens in tumor cells in situ. To this end, we have developed an approach to generate new antigenic determinants in tumor cells using siRNA technology to inhibit nonsense-mediated mRNA decay (NMD), a surveillance mechanism which prevents the expression of mRNAs containing a premature termination codon. Targeting siRNA inhibition to tumor cells--an essential requisite because of the constitutive nature and physiological roles of the NMD process--is accomplished by using a novel targeting technology based on using oligonucleotide aptamer ligands. Aptamers or aptamer-targeted siRNA conjugates, unlike antibodies, can be synthesized in a chemical process providing a more straightforward and cost-effective manufacturing and regulatory approval process to generate clinical-grade reagents. In murine tumor models, the aptamer-targeted siRNA-mediated NMD inhibition in tumor cells led to significant inhibition of tumor growth, which was superior to best-in-class "conventional" cancer vaccination protocols. Tumor-targeted NMD inhibition forms the basis of a simple, broadly useful, and clinically feasible approach to enhance the antigenicity of disseminated tumors leading to their immune recognition and rejection. The cell-free chemically synthesized oligonucleotide backbone of aptamer-siRNAs reduces the risk of immunogenicity and enhances the feasibility of generating reagents suitable for clinical use. DOI: 10.1007/s12026-013-8442-7 PMID: 24198064 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20232424
1. Pediatr Blood Cancer. 2010 Jul 15;55(1):35-41. doi: 10.1002/pbc.22465. Inhibition of Aurora Kinase A enhances chemosensitivity of medulloblastoma cell lines. El-Sheikh A(1), Fan R, Birks D, Donson A, Foreman NK, Vibhakar R. Author information: (1)Department of Pediatrics, University of Iowa, Iowa, USA. BACKGROUND: Medulloblastoma comprises approximately 20% of all primary pediatric brain tumors. Despite recent advances, the survival rate for high-risk patients and the morbidity associated with these treatments remains suboptimal. To improve outcomes and decrease morbidity, more targeted therapy is required. One possible target is the Aurora Kinase family. The objective of this study was to evaluate the impact of Aurora Kinase A inhibition in medulloblastoma cell lines. PROCEDURE: Cell proliferation was measured using an MTS assay after adding an Aurora Kinase inhibitor (C1368) at different concentrations. Cell cycle analysis was carried out by Flow Cytometry using propidium iodide (PI). RNAi experiments were performed using siRNA oligonucleotides. Luciferase experiments were carried out using the Cignal Finder 10 Pathway Reporter Arrays. RESULTS: Inhibition of Aurora Kinase A induces cell death in medulloblastoma cells and lowers the IC(50) of other chemotherapeutic agents (etoposide and cisplatin) used in medulloblastoma treatment. Cell arrest at G2/M phase was significantly increased in medulloblastoma cell lines treated with C1368 Sigma at IC(30) or transfected siRNA. Inhibition of Aurora Kinase A resulted in decreased activity of pro-proliferative signaling pathways including Wnt, Myc, and RB as measured by luciferase reporter assays. CONCLUSIONS: These data indicate that inhibition of Aurora Kinase A inhibits cell growth in medulloblastoma through inhibition of pro-proliferative signaling pathways Wnt, Myc, and RB. Additionally, combining Aurora Kinase A inhibition with other chemotherapeutic agents significantly lowers their IC(50), which make it a promising small molecule target for medulloblastoma therapy. DOI: 10.1002/pbc.22465 PMID: 20232424 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21679342
1. Cancer Sci. 2011 Oct;102(10):1756-60. doi: 10.1111/j.1349-7006.2011.02010.x. Epub 2011 Jul 26. Hedgehog signaling pathway as a therapeutic target in various types of cancer. Onishi H(1), Katano M. Author information: (1)Department of Cancer Therapy and Research, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. ohnishi@surg1.med.kyushu-u.ac.jp Hedgehog (Hh) signaling is an important factor in growth and patterning during embryonic development. A mutation in Patched, Smoothened or Gli1, which regulate the Hh signaling pathway, might lead to the onset of glioblastoma, basal cell carcinoma, medulloblastoma and rhabdomyosarcoma. Recently, Hh signaling has been reported to be activated in a ligand-dependent manner, contributing to carcinogenesis and cancer progression. Hedgehog signaling is reactivated in various types of cancer, and this contributes to cancer progression by facilitating proliferation, invasion and cell survival. Moreover, Hh signaling is associated with several other signaling pathways that contribute to cancer progression. These observations indicate that controlling Hh signaling might become a target for novel molecular targeting therapy. DOI: 10.1111/j.1349-7006.2011.02010.x PMID: 21679342 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/15926872
1. Expert Opin Investig Drugs. 2005 May;14(5):671-82. doi: 10.1517/13543784.14.5.671. Pegaptanib sodium for the treatment of neovascular age-related macular degeneration. Moshfeghi AA(1), Puliafito CA. Author information: (1)Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, 900 NW 17th Street, Miami, FL 33136, USA. This article reviews pegaptanib sodium, a compound developed by Eyetech Pharmaceuticals Inc. and Pfizer Inc., for the treatment of neovascular age-related macular degeneration (AMD). Traditional treatment approaches to neovascular AMD have included destructive therapies such as thermal laser photocoagulation and photodynamic therapy; the use of pegaptanib sodium heralds a new treatment approach that is a non-destructive therapy based on the inhibition of vascular endothelial growth factor activity in the eye. This diminishes the neovascular drive in the pathologically hyperpermeable state of the diseased eye. Pegaptanib sodium is one of the first therapeutics belonging to the class of compounds known as aptamers. The chemistry, mechanism of action, pharmacokinetics and rationale for the clinical use of the drug are reviewed. The article highlights and summarises the results of the multi-centre, randomised, sham-controlled clinical trials with pegaptanib sodium to treat subfoveal choroidal neovascularisation in AMD. In addition, the safety profile is reviewed. DOI: 10.1517/13543784.14.5.671 PMID: 15926872 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18651559
1. J Cell Physiol. 2008 Dec;217(3):577-83. doi: 10.1002/jcp.21542. Signaling pathways in medulloblastoma. Guessous F(1), Li Y, Abounader R. Author information: (1)Department of Neurology, University of Virginia, Charlottesville, Virginia 22908, USA. Medulloblastoma is the most common brain tumor of childhood. Multiple signaling pathways have been associated with medulloblastoma formation and growth. These include the developmental pathways Hedgehog, (Hh) Notch, and Wnt as well as the receptor tyrosine kinases (RTK) c-Met, erbB2, IGF-R and TrkC, and the oncoprotein Myc. Here we review the involvement of these pathways in medulloblastoma malignancy with a focus on their mode of deregulation, prognostic value, functional effects, cellular and molecular mechanisms of action, and implications for therapy. DOI: 10.1002/jcp.21542 PMID: 18651559 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/15968382
1. Thromb Haemost. 2005 Jun;93(6):1014-20. doi: 10.1160/TH04-12-0790. Nucleic acid aptamers in therapeutic anticoagulation. Technology, development and clinical application. Becker RC(1), Rusconi C, Sullenger B. Author information: (1)Cardiovascular Thrombosis Research Center, Duke Clinical Research Institute, 2400 Pratt Street, Room 0311 Terrace Level, Durham, North Carolina 27715, USA. Becke021@mc.duke.edu The evolution of anticoagulant therapy for the prevention and treatment of thrombotic disorders has progressed at a relatively modest pace considering the scope of the problem and our current understanding of platelet biology, coagulation proteases, and vascular science as they apply to protective haemostasis and pathologic thrombosis. Recent observations, dedicated to cellular-based models of coagulation, provide fundamental constructs, mechanistic clarity, and potentially unparalleled opportunity for accelerating the development and wide-scale clinical use of safe, effective, regulatable and patient-specific therapies. The following review introduces a novel domain of anticoagulant therapy referred to as aptamers (derived from the Latin aptus - to fit), considering their history, development, and potential application in patient care arenas. DOI: 10.1160/TH04-12-0790 PMID: 15968382 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21838685
1. Curr Med Chem. 2011;18(27):4206-14. doi: 10.2174/092986711797189600. Nucleic acid aptamers: clinical applications and promising new horizons. Ni X(1), Castanares M, Mukherjee A, Lupold SE. Author information: (1)James Buchanan Brady Urological Institute, Johns Hopkins University School of Medicine 600 N Wolfe St., Baltimore, MD 21287, USA. Aptamers are a special class of nucleic acid molecules that are beginning to be investigated for clinical use. These small RNA/DNA molecules can form secondary and tertiary structures capable of specifically binding proteins or other cellular targets; they are essentially a chemical equivalent of antibodies. Aptamers have the advantage of being highly specific, relatively small in size, and non-immunogenic. Since the discovery of aptamers in the early 1990s, great efforts have been made to make them clinically relevant for diseases like cancer, HIV, and macular degeneration. In the last two decades, many aptamers have been clinically developed as inhibitors for targets such as vascular endothelial growth factor (VEGF) and thrombin. The first aptamer based therapeutic was FDA approved in 2004 for the treatment of age-related macular degeneration and several other aptamers are currently being evaluated in clinical trials. With advances in targeted-therapy, imaging, and nanotechnology, aptamers are readily considered as potential targeting ligands because of their chemical synthesis and ease of modification for conjugation. Preclinical studies using aptamer-siRNA chimeras and aptamer targeted nanoparticle therapeutics have been very successful in mouse models of cancer and HIV. In summary aptamers are in several stages of development, from pre-clinical studies to clinical trials and even as FDA approved therapeutics. In this review, we will discuss the current state of aptamers in clinical trials as well as some promising aptamers in pre-clinical development. DOI: 10.2174/092986711797189600 PMCID: PMC3260938 PMID: 21838685 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/16510586
1. Cancer Res. 2006 Mar 1;66(5):2666-72. doi: 10.1158/0008-5472.CAN-05-2198. N-myc can substitute for insulin-like growth factor signaling in a mouse model of sonic hedgehog-induced medulloblastoma. Browd SR(1), Kenney AM, Gottfried ON, Yoon JW, Walterhouse D, Pedone CA, Fults DW. Author information: (1)Department of Neurosurgery, University of Utah School of Medicine, Salt Lake City, Utah 84132-2303, USA. Medulloblastoma is a malignant brain tumor that arises in the cerebellum in children, presumably from granule neuron precursors (GNP). Advances in patient treatment have been hindered by a paucity of animal models that accurately reflect the molecular pathogenesis of human tumors. Aberrant activation of the Sonic hedgehog (Shh) and insulin-like growth factor (IGF) pathways is associated with human medulloblastomas. Both pathways are essential regulators of GNP proliferation during cerebellar development. In cultured GNPs, IGF signaling stabilizes the oncogenic transcription factor N-myc by inhibiting glycogen synthase kinase 3beta-dependent phosphorylation and consequent degradation of N-myc. However, determinants of Shh and IGF tumorigenicity in vivo remain unknown. Here we report a high frequency of medulloblastoma formation in mice following postnatal overexpression of Shh in cooperation with N-myc. Overexpression of N-myc, alone or in combination with IGF signaling mediators or with the Shh target Gli1, did not cause tumors. Thus, Shh has transforming functions in addition to induction of N-myc and Gli1. This tumor model will be useful for testing novel medulloblastoma therapies and providing insight into mechanisms of hedgehog-mediated transformation. DOI: 10.1158/0008-5472.CAN-05-2198 PMID: 16510586 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/16631118
1. Biochem Biophys Res Commun. 2006 Jun 9;344(3):792-7. doi: 10.1016/j.bbrc.2006.03.201. Epub 2006 Apr 17. Delivery of double-stranded DNA thioaptamers into HIV-1 infected cells for antiviral activity. Ferguson MR(1), Rojo DR, Somasunderam A, Thiviyanathan V, Ridley BD, Yang X, Gorenstein DG. Author information: (1)Division of Infectious Diseases, Department of Internal Medicine, The University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555, USA. mrfergus@utmb.edu Oligonucleotide agents (ODN) are emerging as attractive alternatives to chemical drugs. However, the clinical use of ODNs as therapeutics has been hindered by their susceptibility to degradation by cellular enzymes and their limited ability to penetrate intact cells. We have used various liposome-mediated transfection agents, for the in vitro delivery of DNA thioaptamers into U373-MAGI-CCR5 cells. Our lead thioaptamer, R12-2, targets the RNase H domain of the HIV-1 reverse transcriptase (RT) and inhibits viral infection in U373-MAGI-CCR5 cells. R12-2, a 62-base-pair, double-stranded DNA molecule with a monothio-phosphate modified backbone, was selected through a novel combinatorial selection method. We studied the use of oligofectamine (OF), TFX-20, Transmessenger (TM), and Gene Jammer (GJ) for transfection of the thio-modified DNA aptamers. OF-transfected U373-MAGI-CCR5 cells resulted in 68% inhibition of HIV infection in the treated cells compared to the untreated control. Inhibition was observed in a dose-dependent manner with maximal inhibition of 83%. In this report, we demonstrate that monothioate-modified DNA duplex oligonucleotides can be efficiently delivered into cells by liposome-based transfection agents to inhibit HIV replication. DOI: 10.1016/j.bbrc.2006.03.201 PMID: 16631118 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/9973222
1. Cancer Res. 1999 Feb 1;59(3):711-9. Activation of neurotrophin-3 receptor TrkC induces apoptosis in medulloblastomas. Kim JY(1), Sutton ME, Lu DJ, Cho TA, Goumnerova LC, Goritchenko L, Kaufman JR, Lam KK, Billet AL, Tarbell NJ, Wu J, Allen JC, Stiles CD, Segal RA, Pomeroy SL. Author information: (1)Department of Neurology, Children's Hospital, Boston, Massachusetts 02115, USA. Elevated expression of the neurotrophin-3 (NT-3) receptor TrkC by childhood medulloblastomas is associated with favorable clinical outcome. Here, we provide evidence that TrkC is more than simply a passive marker of prognosis. We demonstrate that: (a) medulloblastomas undergo apoptosis in vitro when grown in the presence of NT-3; (b) overexpression of TrkC inhibits the growth of intracerebral xenografts of a medulloblastoma cell line in nude mice; and (c) trkC expression by individual tumor cells is highly correlated with apoptosis within primary medulloblastoma biopsy specimens. TrkC-mediated NT-3 signaling promotes apoptosis by activating multiple parallel signaling pathways and by inducing immediate-early gene expression of both c-jun and c-fos. Considered collectively, these results support the conclusion that the biological actions of TrkC activation affect medulloblastoma outcome by inhibiting tumor growth through the promotion of apoptosis. PMID: 9973222 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19574499
1. Genome Res. 2009 Sep;19(9):1570-8. doi: 10.1101/gr.092833.109. Epub 2009 Jul 2. Identification of rare cancer driver mutations by network reconstruction. Torkamani A(1), Schork NJ. Author information: (1)The Scripps Translational Science Institute and Scripps Genomic Medicine, Scripps Health and The Scripps Research Institute, La Jolla, California 92037, USA. Recent large-scale tumor resequencing studies have identified a number of mutations that might be involved in tumorigenesis. Analysis of the frequency of specific mutations across different tumors has been able to identify some, but not all of the mutated genes that contribute to tumor initiation and progression. One reason for this is that other functionally important genes are likely to be mutated more rarely and only in specific contexts. Thus, for example, mutation in one member of a collection of functionally related genes may result in the same net effect, and/or mutations in certain genes may be observed less frequently if they play functional roles in later stages of tumor development, such as metastasis. We modified and applied a network reconstruction and coexpression module identification-based approach to identify functionally related gene modules targeted by somatic mutations in cancer. This method was applied to available breast cancer, colorectal cancer, and glioblastoma sequence data, and identified Wnt/TGF-beta cross-talk, Wnt/VEGF signaling, and MAPK/focal adhesion kinase pathways as targets of rare driver mutations in breast, colorectal cancer, and glioblastoma, respectively. These mutations do not appear to alter genes that play a central role in these pathways, but rather contribute to a more refined shaping or "tuning" of the functioning of these pathways in such a way as to result in the inhibition of their tumor-suppressive signaling arms, and thereby conserve or enhance tumor-promoting processes. DOI: 10.1101/gr.092833.109 PMCID: PMC2752121 PMID: 19574499 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20053726
1. Mol Cancer Res. 2010 Jan;8(1):35-45. doi: 10.1158/1541-7786.MCR-09-0220. Epub 2010 Jan 6. Sunitinib induces apoptosis and growth arrest of medulloblastoma tumor cells by inhibiting STAT3 and AKT signaling pathways. Yang F(1), Jove V, Xin H, Hedvat M, Van Meter TE, Yu H. Author information: (1)Cancer Immunotherapeutics and Tumor Immunology, Beckman Research Institute, City of Hope Cancer Center, 1500 East Duarte Road, Duarte, CA 91010, USA. Medulloblastomas are the most frequent malignant brain tumors in children. Sunitinib is an oral multitargeted tyrosine kinase inhibitor used in clinical trials as an antiangiogenic agent for cancer therapy. In this report, we show that sunitinib induced apoptosis and inhibited cell proliferation of both a short-term primary culture (VC312) and an established cell line (Daoy) of human medulloblastomas. Sunitinib treatment resulted in the activation of caspase-3 and cleavage of poly(ADP-ribose) polymerase and upregulation of proapoptotic genes, Bak and Bim, and inhibited the expression of survivin, an antiapoptotic protein. Sunitinib treatment also downregulated cyclin E, cyclin D2, and cyclin D3 and upregulated p21Cip1, all of which are involved in regulating cell cycle. In addition, it inhibited phosphorylation of signal transducer and activator of transcription 3 (STAT3) and AKT (protein kinase B) in the tumor cells. Dephosphorylation of STAT3 (Tyr(705)) induced by sunitinib was helped by a reduction in activities of Janus-activated kinase 2 and Src. Additionally, sodium vanadate, an inhibitor of protein tyrosine phosphatases, partially blocked the inhibition of phosphorylated STAT3 by sunitinib. Loss of phosphorylated AKT after sunitinib treatment was accompanied by decreased phosphorylation of downstream proteins glycogen synthase kinase-3beta and mammalian target of rapamycin. Expression of a constitutively activated STAT3 mutant or myristoylated AKT partially blocked the effects of sunitinib in these tumor cells. Sunitinib also inhibited the migration of medulloblastoma tumor cells in vitro. These findings suggest the potential use of sunitinib for the treatment of pediatric medulloblastomas. DOI: 10.1158/1541-7786.MCR-09-0220 PMCID: PMC2808420 PMID: 20053726 [Indexed for MEDLINE] Conflict of interest statement: Disclosure of Potential Conflicts of Interest No potential conflicts of interest were disclosed.
http://www.ncbi.nlm.nih.gov/pubmed/16707597
1. Clin Cancer Res. 2006 May 15;12(10):3019-27. doi: 10.1158/1078-0432.CCR-05-2187. Phosphatidylinositol 3'-kinase/AKT signaling is activated in medulloblastoma cell proliferation and is associated with reduced expression of PTEN. Hartmann W(1), Digon-Söntgerath B, Koch A, Waha A, Endl E, Dani I, Denkhaus D, Goodyer CG, Sörensen N, Wiestler OD, Pietsch T. Author information: (1)Department of Neuropathology, University of Bonn Medical Center, Bonn, Germany. PURPOSE: Medulloblastomas represent the most frequent malignant brain tumors of childhood. They are supposed to originate from cerebellar neural precursor cells. Recently, it has been shown that Sonic Hedgehog-induced formation of medulloblastoma in an animal model is significantly enhanced by activation of the phosphatidylinositol 3'-kinase (PI3K) signaling pathway. EXPERIMENTAL DESIGN: To examine a role for PI3K/AKT signaling in the molecular pathogenesis of human medulloblastoma, we did an immunohistochemical study of the expression of Ser473-phosphorylated (p)-AKT protein in 22 medulloblastoma samples: All samples displayed p-AKT expression. To investigate if an activated PI3K/AKT pathway is required for medulloblastoma cell growth, we treated five human medulloblastoma cell lines with increasing concentrations of the PI3K inhibitor LY294002 and analyzed cellular proliferation and apoptosis. The antiproliferative effect could be antagonized by overexpressing constitutively active AKT. As the activation of PI3K/AKT signaling may be associated with alterations of the PTEN gene located at 10q23.3, a chromosomal region subject to frequent allelic losses in medulloblastoma, we screened PTEN for mutations and mRNA expression. RESULTS: Proliferation of all of the medulloblastoma cell lines was dependent on PI3K/AKT signaling, whereas apoptosis was not prominently affected. Allelic loss was detected in 16% of the cases. One medulloblastoma cell line was found to carry a truncating mutation in the PTEN coding sequence. Even more important, PTEN mRNA and protein levels were found to be significantly lower in medulloblastomas compared with normal cerebellar tissue of different developmental stages. Reduction of PTEN expression was found to be associated with PTEN promoter hypermethylation in 50% of the tumor samples. CONCLUSIONS: We conclude that activation of the PI3K/AKT pathway constitutes an important step in the molecular pathogenesis of medulloblastoma and that dysregulation of PTEN may play a significant role in this context. DOI: 10.1158/1078-0432.CCR-05-2187 PMID: 16707597 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17545597
1. Cancer Res. 2007 Jun 1;67(11):5179-85. doi: 10.1158/0008-5472.CAN-06-4177. Apoptosis suppression by somatic cell transfer of Bcl-2 promotes Sonic hedgehog-dependent medulloblastoma formation in mice. McCall TD(1), Pedone CA, Fults DW. Author information: (1)Department of Neurosurgery, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. Medulloblastomas are malignant brain tumors that arise in the cerebellum in children. Aberrant activation of the Sonic hedgehog (Shh) signaling pathway, which normally stimulates proliferation of granule neuron precursors (GNP) during cerebellar development, induces tumors in mice that closely mimic human medulloblastomas. Shh-dependent medulloblastoma formation is enhanced by hyperactive insulin-like growth factor (IGF) signaling and ectopic expression of Myc oncogenes. This enhanced tumorigenesis stems from the sensitivity of GNPs to IGF and Myc levels in regulating proliferation. An emerging theme in cancer research is that oncogene-induced cell proliferation cannot initiate neoplastic transformation unless cellular programs that mediate apoptosis are disabled. Here, we report a high frequency of medulloblastoma formation in mice after postnatal overexpression of the antiapoptotic protein Bcl-2 in cooperation with Shh. Ectopic expression of Bcl-2 alone or in combination with N-Myc did not induce tumors, indicating that Shh has essential transforming functions in GNPs not supplied by the mitogenic stimulus of N-Myc combined with a strong antiapoptotic signal provided by Bcl-2. Expression of endogenous Bcl-2 was not up-regulated in Shh-induced tumors. Instead, elevated levels of phosphorylated Akt were found, suggesting that activated phosphatidylinositol 3-kinase signaling is one intrinsic mechanism for suppressing apoptosis in Shh-dependent medulloblastomas. Thus, blockade of apoptosis cooperates with Shh-stimulated proliferation to transform GNPs and induce aggressive medulloblastomas. These findings provide insights into the molecular signals that initiate medulloblastoma formation and they support the importance of blocking apoptosis in carcinogenesis. DOI: 10.1158/0008-5472.CAN-06-4177 PMID: 17545597 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21358093
1. J Cancer Res Ther. 2010 Oct-Dec;6(4):521-9. doi: 10.4103/0973-1482.77072. Distinctive microRNA signature of medulloblastomas associated with the WNT signaling pathway. Gokhale A(1), Kunder R, Goel A, Sarin R, Moiyadi A, Shenoy A, Mamidipally C, Noronha S, Kannan S, Shirsat NV. Author information: (1)Advanced Centre for Treatment, Research and Education in Cancer, Tata Memorial Centre, Kharghar, Navi Mumbai 410210, Maharashtra, India. AIM: Medulloblastoma is a malignant brain tumor that occurs predominantly in children. Current risk stratification based on clinical parameters is inadequate for accurate prognostication. MicroRNA expression is known to be deregulated in various cancers and has been found to be useful in predicting tumor behavior. In order to get a better understanding of medulloblastoma biology, miRNA profiling of medulloblastomas was carried out in parallel with expression profiling of protein-coding genes. MATERIALS AND METHODS: miRNA profiling of medulloblastomas was carried out using Taqman Low Density Array v 1.0 having 365 human microRNAs. In parallel, genome-wide expression profiling of protein-coding genes was carried out using Affymetrix gene 1.0 ST arrays. RESULTS: Both the profiling studies identified four molecular subtypes of medulloblastomas. Expression levels of select protein-coding genes and miRNAs could classify an independent set of medulloblastomas. Twelve of 31 medulloblastomas were found to overexpress genes belonging to the canonical WNT signaling pathway and carry a mutation in CTNNB1 gene. A number of miRNAs like miR-193a, miR-224/miR-452 cluster, miR-182/miR-183/miR-96 cluster, and miR-148a having potential tumor/metastasis suppressive activity were found to be overexpressed in the WNT signaling associated medulloblastomas. Exogenous expression of miR-193a and miR-224, two miRNAs that have the highest WNT pathway specific upregulation, was found to inhibit proliferation, increase radiation sensitivity and reduce anchorage-independent growth of medulloblastoma cells. CONCLUSION: Expression level of tumor/metastasis suppressive miRNAs in the WNT signaling associated medulloblastomas is likely to determine their response to treatment, and thus, these miRNAs would be important biomarkers for risk stratification within the WNT signaling associated medulloblastomas. DOI: 10.4103/0973-1482.77072 PMID: 21358093 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19738049
1. Cancer Res. 2009 Sep 15;69(18):7224-34. doi: 10.1158/0008-5472.CAN-09-1299. Epub 2009 Sep 8. Tuberous sclerosis complex suppression in cerebellar development and medulloblastoma: separate regulation of mammalian target of rapamycin activity and p27 Kip1 localization. Bhatia B(1), Northcott PA, Hambardzumyan D, Govindarajan B, Brat DJ, Arbiser JL, Holland EC, Taylor MD, Kenney AM. Author information: (1)Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA. During development, proliferation of cerebellar granule neuron precursors (CGNP), candidate cells-of-origin for the pediatric brain tumor medulloblastoma, requires signaling by Sonic hedgehog (Shh) and insulin-like growth factor (IGF), the pathways of which are also implicated in medulloblastoma. One of the consequences of IGF signaling is inactivation of the mammalian target of rapamycin (mTOR)-suppressing tuberous sclerosis complex (TSC), comprised of TSC1 and TSC2, leading to increased mRNA translation. We show that mice, in which TSC function is impaired, display increased mTOR pathway activation, enhanced CGNP proliferation, glycogen synthase kinase-3 alpha/beta (GSK-3 alpha/beta) inactivation, and cytoplasmic localization of the cyclin-dependent kinase inhibitor p27(Kip1), which has been proposed to cause its inactivation or gain of oncogenic functions. We observed the same characteristics in wild-type primary cultures of CGNPs in which TSC1 and/or TSC2 were knocked down, and in mouse medulloblastomas induced by ectopic Shh pathway activation. Moreover, Shh-induced mouse medulloblastomas manifested Akt-mediated TSC2 inactivation, and the mutant TSC2 allele synergized with aberrant Shh signaling to increase medulloblastoma incidence in mice. Driving exogenous TSC2 expression in Shh-induced medulloblastoma cells corrected p27(Kip1) localization and reduced proliferation. GSK-3 alpha/beta inactivation in the tumors in vivo and in primary CGNP cultures was mTOR-dependent, whereas p27(Kip1) cytoplasmic localization was regulated upstream of mTOR by TSC2. These results indicate that a balance between Shh mitogenic signaling and TSC function regulating new protein synthesis and cyclin-dependent kinase inhibition is essential for the normal development and prevention of tumor formation or expansion. DOI: 10.1158/0008-5472.CAN-09-1299 PMCID: PMC2745891 PMID: 19738049 [Indexed for MEDLINE] Conflict of interest statement: Conflicts of Interest: None
http://www.ncbi.nlm.nih.gov/pubmed/25052069
1. Cancer Med. 2014 Oct;3(5):1146-58. doi: 10.1002/cam4.314. Epub 2014 Jul 23. Inhibition of epidermal growth factor signaling by the cardiac glycoside ouabain in medulloblastoma. Wolle D(1), Lee SJ, Li Z, Litan A, Barwe SP, Langhans SA. Author information: (1)Nemours Center for Childhood Cancer Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, 19803. Epidermal growth factor (EGF) signaling regulates cell growth, proliferation, and differentiation. Upon receptor binding, EGF triggers cascades of downstream signaling, including the MAPK and phosphoinositide-3-kinase (PI3K)/Akt signaling pathways. Aberrant expression/activation of EGFR is found in multiple human cancers, including medulloblastoma, the most prevalent pediatric brain cancer, and often has been associated with metastasis, poor prognosis, and resistance to chemotherapy. Na,K-ATPase is an ion pump well known for its role in intracellular ion homeostasis. Recent studies showed that Na,K-ATPase also functions as a signaling platform and revealed a role in EGFR, MAPK, and PI3K signaling. While both EGFR and Na,K-ATPase seem to modulate similar signaling pathways, cardiac glycosides that are steroid-like inhibitors of Na,K-ATPase, exhibit antiproliferative and proapoptotic properties in cancer cells. Thus, we sought to better understand the relationship between EGF and cardiac glycoside signaling. Here, we show that in medulloblastoma cells, both EGF and ouabain activate Erk1/2 and PI3K/Akt signaling. Nevertheless, in medulloblastoma cells ouabain did not transactivate EGFR as has been reported in various other cell lines. Indeed, ouabain inhibited EGF-induced Erk1/2 and Akt activation and, moreover, prevented EGF-induced formation of actin stress fibers and cell motility, probably by activating a stress signaling response. Na,K-ATPase has been proposed to act as a signaling scaffold and our studies suggest that in medulloblastoma cells Na,K-ATPase might act as a check point to integrate EGF-associated signaling pathways. Thus, Na,K-ATPase might serve as a valid target to develop novel therapeutic approaches in tumors with aberrant activation of the EGFR signaling cascades. © 2014 The Authors. Cancer Medicine published by John Wiley & Sons Ltd. DOI: 10.1002/cam4.314 PMCID: PMC4302666 PMID: 25052069 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/24233780
1. Methods Mol Biol. 2014;1101:113-34. doi: 10.1007/978-1-62703-721-1_7. Statistical tools and R software for cancer driver probabilities. Parmigiani G(1), Boca S, Ding J, Trippa L. Author information: (1)Department of Biostatistics and Computational Biology, Dana Farber Cancer Institute, Boston, MA, USA. This chapter provides a description and illustration of CancerMutationAnalysis and Cancer MutationMCMC, two open source R packages specifically designed for the analysis of somatic mutations in cancer genome studies, at both the gene and gene-set levels. DOI: 10.1007/978-1-62703-721-1_7 PMID: 24233780 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21169372
1. Bioinformatics. 2011 Jan 15;27(2):175-81. doi: 10.1093/bioinformatics/btq630. Epub 2010 Dec 17. Identifying cancer driver genes in tumor genome sequencing studies. Youn A(1), Simon R. Author information: (1)Biometric Research Branch, National Cancer Institute, Bethesda, MD 20892-7434, USA. MOTIVATION: Major tumor sequencing projects have been conducted in the past few years to identify genes that contain 'driver' somatic mutations in tumor samples. These genes have been defined as those for which the non-silent mutation rate is significantly greater than a background mutation rate estimated from silent mutations. Several methods have been used for estimating the background mutation rate. RESULTS: We propose a new method for identifying cancer driver genes, which we believe provides improved accuracy. The new method accounts for the functional impact of mutations on proteins, variation in background mutation rate among tumors and the redundancy of the genetic code. We reanalyzed sequence data for 623 candidate genes in 188 non-small cell lung tumors using the new method. We found several important genes like PTEN, which were not deemed significant by the previous method. At the same time, we determined that some genes previously reported as drivers were not significant by the new analysis because mutations in these genes occurred mainly in tumors with large background mutation rates. AVAILABILITY: The software is available at: http://linus.nci.nih.gov/Data/YounA/software.zip. DOI: 10.1093/bioinformatics/btq630 PMCID: PMC3018819 PMID: 21169372 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19704786
1. Commun Integr Biol. 2008;1(1):34-6. doi: 10.4161/cib.1.1.6622. Nucleoid autonomy: An underlying mechanism of mitochondrial genetics with therapeutic potential. Gilkerson RW(1), Schon EA. Author information: (1)Department of Neurology; College of Physicians and Surgeons; Columbia University; New York, New York USA. Comment on Gilkerson RW, Schon EA, Hernandez E, Davidson MM. Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation. J Cell Biol. 2008;181:1117–1128. Emerging research shows that the packaging of mitochondrial DNA (mtDNA) into protein-DNA assemblies called nucleoids confers higher-order organization to the mitochondrial genome. Studies of nucleoid composition, structure and dynamics reveal the mitochondrial nucleoid to be tightly regulated in its genetic autonomy, macromolecular organization and distribution throughout the cell. Our recent research shows that mitochondrial nucleoids are self-contained genetic entities that do not exchange mtDNAs with each other frequently. This suggests that the genetic composition of a cell's nucleoids will be the key determinant of the cell's mtDNA dynamics, and provides a mechanistic basis for therapeutic methods to rescue dysfunction due to mutations in mtDNA. DOI: 10.4161/cib.1.1.6622 PMCID: PMC2633794 PMID: 19704786
http://www.ncbi.nlm.nih.gov/pubmed/23694700
1. IEEE Trans Nanobioscience. 2013 Sep;12(3):150-7. doi: 10.1109/TNB.2013.2263391. Epub 2013 May 16. Adjusting for background mutation frequency biases improves the identification of cancer driver genes. Evans P(1), Avey S, Kong Y, Krauthammer M. Author information: (1)Department of Pathology, Yale University School of Medicine, New Haven, CT 06511, USA. A common goal of tumor sequencing projects is finding genes whose mutations are selected for during tumor development. This is accomplished by choosing genes that have more non-synonymous mutations than expected from an estimated background mutation frequency. While this background frequency is unknown, it can be estimated using both the observed synonymous mutation frequency and the non-synonymous to synonymous mutation ratio. The synonymous mutation frequency can be determined across all genes or in a gene-specific manner. This choice introduces an interesting trade-off. A gene-specific frequency adjusts for an underlying mutation bias, but is difficult to estimate given missing synonymous mutation counts. Using a genome-wide synonymous frequency is more robust, but is less suited for adjusting biases. Studying four evaluation criteria for identifying genes with high non-synonymous mutation burden (reflecting preferential selection of expressed genes, genes with mutations in conserved bases, genes with many protein interactions, and genes that show loss of heterozygosity), we find that the gene-specific synonymous frequency is superior in the gene expression and protein interaction tests. In conclusion, the use of the gene-specific synonymous mutation frequency is well suited for assessing a gene's non-synonymous mutation burden. DOI: 10.1109/TNB.2013.2263391 PMCID: PMC3989533 PMID: 23694700 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21865355
1. J Clin Endocrinol Metab. 2011 Nov;96(11):3374-80. doi: 10.1210/jc.2011-1678. Epub 2011 Aug 24. Continuation of amiodarone delays restoration of euthyroidism in patients with type 2 amiodarone-induced thyrotoxicosis treated with prednisone: a pilot study. Bogazzi F(1), Bartalena L, Tomisti L, Rossi G, Brogioni S, Martino E. Author information: (1)Department of Endocrinology and Metabolism, University of Pisa, Ospedale Cisanello, Via Paradisa, 2, 56124 Pisa, Italy. fausto.bogazzi@med.unipi.it CONTEXT: Type 2 amiodarone-induced thyrotoxicosis (AIT) is a destructive thyroiditis usually responsive to glucocorticoids. Whether continuation of amiodarone affects treatment outcome is unsettled. OBJECTIVE: The objective of the study was to compare the outcome of glucocorticoid treatment in type 2 AIT patients who continued or withdrew amiodarone. DESIGN: This was a matched retrospective cohort study. SETTING: The study was conducted at a university center. PATIENTS: Eighty-three consecutive patients with untreated type 2 AIT participated in the study. After matching with patients continuing amiodarone (AMIO-ON, n = 8), patients interrupting amiodarone were randomly selected in a 4:1 ratio (AMIO-OFF, n = 32). INTERVENTION: All patients were treated with oral prednisone. Patients whose thyrotoxicosis recurred after glucocorticoid withdrawal were treated with a second course of prednisone. MAIN OUTCOME MEASURE: Time and rate of cure were measured. RESULTS: Median time to the first normalization of serum thyroid hormone levels did not significantly differ in AMIO-ON and AMIO-OFF patients (24 and 31 d, respectively; P = 0.326). Conversely, median time for stably restoring euthyroidism was 140 d in AMIO-ON patients and 47 d in AMIO-OFF patients (log rank, P = 0.011). In fact, AIT recurred in five of seven AMIO-ON patients (71.4%) and in only three of 32 AMIO-OFF patients (9.4%, P = 0.002), requiring readministration of prednisone. One AMIO-ON patient never reached thyroid hormone normalization during the study period. Factors associated with glucocorticoid failure were thyroid volume and amiodarone continuation. CONCLUSIONS: Prednisone restores euthyroidism in most type 2 AIT patients, irrespective of amiodarone continuation or withdrawal. However, continuing amiodarone increases the recurrence rate of thyrotoxicosis, causing a delay in the stable restoration of euthyroidism and a longer exposure of the heart to thyroid hormone excess. DOI: 10.1210/jc.2011-1678 PMID: 21865355 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19703654
1. Int J Biochem Cell Biol. 2009 Oct;41(10):1899-906. doi: 10.1016/j.biocel.2009.03.016. Epub 2009 Apr 9. Mitochondrial DNA nucleoids determine mitochondrial genetics and dysfunction. Gilkerson RW(1). Author information: (1)Department of Neurology, College of Physicians & Surgeons, Columbia University, Russ Berrie Pavilion 307, 1150 St. Nicholas Ave., New York, NY 10032, USA. rg2156@columbia.edu Mitochondrial DNA plays a crucial role in cellular homeostasis; however, the molecular mechanisms underlying mitochondrial DNA inheritance and propagation are only beginning to be understood. To ensure the distribution and propagation of the mitochondrial genome, mitochondrial DNA is packaged into macromolecular assemblies called nucleoids, composed of one or more copies of mitochondrial DNA and associated proteins. We review current research on the mitochondrial nucleoid, including nucleoid-associated proteins, nucleoid dynamics within the cell, potential mechanisms to ensure proper distribution of nucleoids, and the impact of nucleoid organization on mitochondrial dysfunction. The nucleoid is the molecular organizing unit of mitochondrial genetics, and is the site of interactions that ultimately determine the bioenergetic state of the cell as a whole. Current and future research will provide essential insights into the molecular and cellular interactions that cause bioenergetic crisis, and yield clues for therapeutic rescue of mitochondrial dysfunction. DOI: 10.1016/j.biocel.2009.03.016 PMID: 19703654 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/21225109
1. Arq Bras Cardiol. 2010 Oct;95(5):e122-4. doi: 10.1590/s0066-782x2010001500022. Amiodarone and thyrotoxicosis: case reports. [Article in English, Portuguese, Spanish] Tavares AB(1), Paula SK, Vaisman M, Teixeira Pde F. Author information: (1)Hospital Universitário Clementino Fraga Filho, UFRJ, Rio de Janeiro, RJ, Brasil. anabeatrizwinter@yahoo.com.br Amiodarone-induced thyroid dysfunction has been reported to affect 2-24% of users. Despite the easy management of amiodarone-induced hypothyroidism, the development of thyrotoxicosis leads to a difficult approach in most cases. The aim of this study is to describe three different cases of patients with amiodarone-induced thyrotoxicosis and discuss the clinical and laboratorial aspects, and the different approaches to them. It is essential to carefully evaluate patients before and during amiodarone therapy, since the prompt diagnosis and treatment of this condition is essential in patients with high cardiovascular risk. DOI: 10.1590/s0066-782x2010001500022 PMID: 21225109 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23637282
1. Cold Spring Harb Perspect Biol. 2013 May 1;5(5):a011080. doi: 10.1101/cshperspect.a011080. The mitochondrial nucleoid: integrating mitochondrial DNA into cellular homeostasis. Gilkerson R(1), Bravo L, Garcia I, Gaytan N, Herrera A, Maldonado A, Quintanilla B. Author information: (1)Department of Biology, University of Texas-Pan American, Edinburg, TX 78539-2999, USA. gilkersonrw@utpa.edu The packaging of mitochondrial DNA (mtDNA) into DNA-protein assemblies called nucleoids provides an efficient segregating unit of mtDNA, coordinating mtDNA's involvement in cellular metabolism. From the early discovery of mtDNA as "extranuclear" genetic material, its organization into nucleoids and integration into both the mitochondrial organellar network and the cell at large via a variety of signal transduction pathways, mtDNA is a crucial component of the cell's homeostatic network. The mitochondrial nucleoid is composed of a set of DNA-binding core proteins involved in mtDNA maintenance and transcription, and a range of peripheral factors, which are components of signaling pathways controlling mitochondrial biogenesis, metabolism, apoptosis, and retrograde mitochondria-to-nucleus signaling. The molecular interactions of nucleoid components with the organellar network and cellular signaling pathways provide exciting clues to the dynamic integration of mtDNA into cellular metabolic homeostasis. DOI: 10.1101/cshperspect.a011080 PMCID: PMC3632060 PMID: 23637282 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18339846
1. Cancer Res. 2008 Mar 15;68(6):1675-82. doi: 10.1158/0008-5472.CAN-07-5283. Prediction of cancer driver mutations in protein kinases. Torkamani A(1), Schork NJ. Author information: (1)Graduate Program in Biomedical Sciences, Center for Human Genetics and Genomics, University of California, San Diego, CA, USA. A large number of somatic mutations accumulate during the process of tumorigenesis. A subset of these mutations contribute to tumor progression (known as "driver" mutations) whereas the majority of these mutations are effectively neutral (known as "passenger" mutations). The ability to differentiate between drivers and passengers will be critical to the success of upcoming large-scale cancer DNA resequencing projects. Here we show a method capable of discriminating between drivers and passengers in the most frequently cancer-associated protein family, protein kinases. We apply this method to multiple cancer data sets, validating its accuracy by showing that it is capable of identifying known drivers, has excellent agreement with previous statistical estimates of the frequency of drivers, and provides strong evidence that predicted drivers are under positive selection by various sequence and structural analyses. Furthermore, we identify particular positions in protein kinases that seem to play a role in oncogenesis. Finally, we provide a ranked list of candidate driver mutations. DOI: 10.1158/0008-5472.CAN-07-5283 PMID: 18339846 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23873099
1. Tumour Biol. 2013 Oct;34(5):2497-506. doi: 10.1007/s13277-013-1002-x. Epub 2013 Jul 20. Twist: a molecular target in cancer therapeutics. Khan MA(1), Chen HC, Zhang D, Fu J. Author information: (1)Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Luzhou Medical College, 3-319 Zhongshan Road, Luzhou, Sichuan, 646000, China. Twist, the basic helix-loop-helix transcription factor, is involved in the process of epithelial to mesenchymal transitions (EMTs), which play an essential role in cancer metastasis. Overexpression of Twist or its promoter methylation is a common scenario in metastatic carcinomas. Twist is activated by a variety of signal transduction pathways, including Akt, signal transducer and activator of transcription 3, mitogen-activated protein kinase, Ras, and Wnt signaling. Activated Twist upregulates N-cadherin and downregulates E-cadherin, which are the hallmarks of EMT. Moreover, Twist plays an important role in some physiological processes involved in metastasis, like angiogenesis, invadopodia, extravasation, and chromosomal instability. Twist also protects cancer cells from apoptotic cell death. In addition, Twist is responsible for the stemness of cancer cells and the generation of drug resistance. Recently, targeting Twist has gained significant interests in cancer therapeutics. The inactivation of Twist by small RNA technology or chemotherapeutic approach has been proved successful. Moreover, several inhibitors which are antagonistic to the upstream or downstream molecules of Twist signaling pathways have also been identified. Development of potential treatment strategies by targeting Twist has a great promise in cancer therapeutics. DOI: 10.1007/s13277-013-1002-x PMID: 23873099 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/24084849
1. Sci Rep. 2013 Oct 2;3:2650. doi: 10.1038/srep02650. Comprehensive identification of mutational cancer driver genes across 12 tumor types. Tamborero D(1), Gonzalez-Perez A, Perez-Llamas C, Deu-Pons J, Kandoth C, Reimand J, Lawrence MS, Getz G, Bader GD, Ding L, Lopez-Bigas N. Author information: (1)1] Research Unit on Biomedical Informatics, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Dr. Aiguader 88, Barcelona, Spain [2]. With the ability to fully sequence tumor genomes/exomes, the quest for cancer driver genes can now be undertaken in an unbiased manner. However, obtaining a complete catalog of cancer genes is difficult due to the heterogeneous molecular nature of the disease and the limitations of available computational methods. Here we show that the combination of complementary methods allows identifying a comprehensive and reliable list of cancer driver genes. We provide a list of 291 high-confidence cancer driver genes acting on 3,205 tumors from 12 different cancer types. Among those genes, some have not been previously identified as cancer drivers and 16 have clear preference to sustain mutations in one specific tumor type. The novel driver candidates complement our current picture of the emergence of these diseases. In summary, the catalog of driver genes and the methodology presented here open new avenues to better understand the mechanisms of tumorigenesis. DOI: 10.1038/srep02650 PMCID: PMC3788361 PMID: 24084849 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20577028
1. Gen Physiol Biophys. 2010 Jun;29(2):160-74. Mouse and human mitochondrial nucleoid--detailed structure in relation to function. Prachar J(1). Author information: (1)Laboratory of Electron Microscopy, Cancer Research Institute, Slovak Academy of Sciences, Vlárska 7, 833 91 Bratislava, Slovakia. jarmil.prachar@savba.sk The independent mitochondrial genetic information is organized in so-called mitochondrial nucleoids that, in vertebrates, typically contain 5-7 genetic units. The total number of nucleoids per cell is several hundred in cultured cells. Mitochondrial nucleoids, similarly to the whole mitochondrial network, have recently been successfully and extensively visualized using fluorescent and confocal microscopy. In the present work, we show high-resolution micrographs of mouse and human mitochondrial nucleoids obtained by transmission electron microscopy. Position in the mitochondria, size, general appearance and other properties of the human nucleoids appear the same as those of mouse nucleoids, and all observations are also in full agreement with the results obtained in different laboratories using different approaches. Most of nucleoids are located inside mitochondrial tubes. However, we show directly that certain part of the nucleoids close to inner membrane is bound to the complex of molecules that crosscut both, the inner and the outer mitochondrial membranes. Nucleoids in cells starving for serum are mostly more dense than those in dividing cells. We discuss the position, appearance and other properties of the nucleoids in relation to functional stage. Other electron-dense structures inside mitochondria that could be erroneously considered to be mitochondrial nucleoids are also described. PMID: 20577028 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23220174
1. Int J Biochem Cell Biol. 2013 Mar;45(3):593-603. doi: 10.1016/j.biocel.2012.11.019. Epub 2012 Dec 7. Distribution of mitochondrial nucleoids upon mitochondrial network fragmentation and network reintegration in HEPG2 cells. Tauber J(1), Dlasková A, Šantorová J, Smolková K, Alán L, Špaček T, Plecitá-Hlavatá L, Jabůrek M, Ježek P. Author information: (1)Department of Membrane Transport Biophysics, No. 75, Institute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic. Mitochondrial DNA (mtDNA) is organized in nucleoids in complex with accessory proteins, proteins of mtDNA replication and gene expression machinery. A robust mtDNA genome is represented by hundreds to thousands of nucleoids in cell mitochondrion. Detailed information is lacking about the dynamics of nucleoid distribution within the mitochondrial network upon physiological and pathological events. Therefore, we used confocal microscopy to study mitochondrial nucleoid redistribution upon mitochondrial fission and following reintegration of the mitochondrial network. Fission was induced by oxidative stress at respiration inhibition by rotenone or upon elimination of the protonmotive force by uncoupling or upon canceling its electrical component, ΔΨ(m), by valinomycin; and by silencing of mitofusin MFN2. Agent withdrawal resulted in concomitant mitochondrial network reintegration. We found two major principal morphological states: (i) a tubular state of the mitochondrial network with equidistant nucleoid spacing, 1.10±0.2 nucleoids per μm, and (ii) a fragmented state of solitary spheroid objects in which several nucleoids were clustered. We rarely observed singular mitochondrial fragments with a single nucleoid inside and very seldom we observed empty fragments. Reintegration of fragments into the mitochondrial network re-established the tubular state with equidistant nucleoid spacing. The two major morphological states coexisted at intermediate stages. These observations suggest that both mitochondrial network fission and reconnection of the disintegrated network are nucleoid-centric, i.e., fission and new mitochondrial tubule formation are initiated around nucleoids. Analyses of combinations of these morphological icons thus provide a basis for a future mitochondrial morphology diagnostics. Copyright © 2012 Elsevier Ltd. All rights reserved. DOI: 10.1016/j.biocel.2012.11.019 PMID: 23220174 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18421194
1. Intern Med. 2008;47(8):757-62. doi: 10.2169/internalmedicine.47.0843. Epub 2008 Apr 16. Differential diagnosis and appropriate treatment of four thyrotoxic patients with Graves' disease required to take amiodarone due to life-threatening arrhythmia. Sato K(1), Omi Y, Kodama H, Obara T, Yamazaki K, Yamada E, Seki T, Takano K, Shiga T, Kasanuki H. Author information: (1)Department of Medicine, Institute of Clinical Endocrinology, Tokyo Women's Medical University, Tokyo. satokan@attglobal.net We report the treatment of four thyrotoxic patients. Two were cases of type I amiodarone-induced thyrotoxicosis (AIT) treated with methimazole. The third Graves' disease patient, who became hypothyroid 25 years after subtotal thyroidectomy, developed type II AIT. Furthermore, one case with heart failure and ventricular tachycardia, who developed an adverse reaction to antithyroid agents and was prescribed amiodarone, underwent total thyroidectomy. The clinical course was uneventful, and the patient is doing well. Since amiodarone contains a large amount of iodine, it is frequently difficult to make a differential diagnosis. Surgical treatment of Graves' disease patients is recommended when immediate control of hyperthyroidism and heart failure is required. DOI: 10.2169/internalmedicine.47.0843 PMID: 18421194 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/12869229
1. Int J STD AIDS. 2003 Jul;14(7):478-81. doi: 10.1258/095646203322025795. Comparison of symptoms of influenza A with abacavir-associated hypersensitivity reaction. Keiser P(1), Nassar N, Skiest D, Andrews C, Yazdani B, White A, Hetherington S. Author information: (1)University of Texas Southwestern Medical Center at Dallas, Texas 75235, USA. Philip.Keiser@email.swmed.edu Differentiation between abacavir hypersensitivity and viral respiratory infections is problematic. Fifteen cases of abacavir hypersensitivity were matched to 30 controls with culture proven influenza A with no abacavir exposure. Rash was associated with hypersensitivity (odds ratio [OR] = 13.1, P = 0.02) as was the presence of nausea (OR = 30, P < 0.001), vomiting (OR = 17.1, P = 0.001) or diarrhoea (OR = 22, P < 0.001). The number of gastrointestinal symptoms was also predictive of hypersensitivity reaction (P < 0.001). Respiratory symptoms (cough, sore throat, or dyspnoea) were not associated with abacavir hypersensitivity (OR = 0.08, P = 0.001). Multivariate analysis confirmed the following associations for abacavir hypersensitivity: the number of gastrointestinal symptoms (OR = 8.6, P = 0.0032), cough (OR = 0.039, P = 0.02) and rash (OR = 16.9, P = 0.07). Abacavir hypersensitivity is strongly associated with gastrointestinal (GI) symptoms. Cough without GI symptoms is associated with influenza. DOI: 10.1258/095646203322025795 PMID: 12869229 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23721879
1. Trends Cell Biol. 2013 Sep;23(9):457-63. doi: 10.1016/j.tcb.2013.04.009. Epub 2013 May 27. mtDNA makes a U-turn for the mitochondrial nucleoid. Kukat C(1), Larsson NG. Author information: (1)Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany. Mitochondria contain mtDNA derived from the ancestral endosymbiont genome. Important subunits of the oxidative phosphorylation system, which supplies cells with the energy currency ATP, are encoded by mtDNA. A naked mtDNA molecule is longer than a typical mitochondrion and is therefore compacted in vivo to form a nucleoprotein complex, denoted the mitochondrial nucleoid. Mitochondrial transcription factor A (TFAM) is the main factor packaging mtDNA into nucleoids and is also essential for mtDNA transcription initiation. The crystal structure of TFAM shows that it bends mtDNA in a sharp U-turn, which likely provides the structural basis for its dual functions. Super-resolution imaging studies have revealed that the nucleoid has an average diameter of ∼100nm and frequently contains a single copy of mtDNA. In this review the structure of the mitochondrial nucleoid and its possible regulatory roles in mtDNA expression will be discussed. Copyright © 2013 Elsevier Ltd. All rights reserved. DOI: 10.1016/j.tcb.2013.04.009 PMID: 23721879 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22865896
1. J Clin Endocrinol Metab. 2012 Oct;97(10):3515-21. doi: 10.1210/jc.2012-1797. Epub 2012 Aug 3. Total thyroidectomy in patients with amiodarone-induced thyrotoxicosis and severe left ventricular systolic dysfunction. Tomisti L(1), Materazzi G, Bartalena L, Rossi G, Marchello A, Moretti M, De Napoli L, Mariotti R, Miccoli P, Martino E, Bogazzi F. Author information: (1)Department of Endocrinology and Metabolism, University of Pisa, Ospedale Cisanello, Via Paradisa, 2, 56124 Pisa, Italy. CONTEXT: Patients with amiodarone-induced thyrotoxicosis (AIT) and left ventricular (LV) systolic dysfunction have a high mortality rate. Usually, medical therapy is the first choice for AIT patients, whereas the role of the thyroidectomy is unsettled. OBJECTIVE: The objective of the study was to evaluate the effect of a total thyroidectomy on cardiac function and survival of AIT patients with severe LV systolic dysfunction. DESIGN: This was a retrospective cohort study. SETTINGS: The study was conducted at a tertiary university center. PATIENTS: All AIT patients (n=24; nine patients with type 1 AIT, 15 patients with type 2 AIT) referred to the Department of Endocrinology and submitted to a total thyroidectomy at the Department of Surgery, both at the University of Pisa, during the years 1997-2010. INTERVENTION: The intervention was a total thyroidectomy. MAIN OUTCOME MEASURE: LV ejection fraction (EF) after the thyroidectomy and survival in December 2011 were measured. RESULTS: All enrolled patients had previously undergone to medical treatment for AIT, as appropriate, without achieving euthyroidism. Patients with moderate to severe LV systolic dysfunction (EF<40%, group 1, n=9) or with mild systolic dysfunction (40%≤EF≤50%, group 2, n=5) were compared with patients with normal systolic function (EF>50%, group 3, n=10). Two months after thyroidectomy, under levothyroxine replacement therapy, LVEF improved in patients with LV systolic dysfunction, particularly in those of group 1, in whom it increased from 28.2±7.2 to 38.3±6% (P=0.007). On the contrary, LVEF did not significantly change in group 3 (from 57.1±3.0 to 59.8±6.6%, P=0.242). The mean follow-up was 67±42 months. No death occurred during and 2 months after surgery. One death occurred in one patient of group 1, 30 months after the thyroidectomy, due to acute myocardial infarction. No patient had relevant complications of thyroidectomy. CONCLUSIONS: Total thyroidectomy, by rapidly restoring euthyroidism, may improve cardiac function and reduce the risk of mortality in AIT patients with severe LV dysfunction. DOI: 10.1210/jc.2012-1797 PMID: 22865896 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18595575
1. J Natl Med Assoc. 2008 Jun;100(6):716-9. doi: 10.1016/s0027-9684(15)31348-1. Radioactive iodine in the treatment of type-2 amiodarone-induced thyrotoxicosis. Gursoy A(1), Tutuncu NB, Gencoglu A, Anil C, Demirer AN, Demirag NG. Author information: (1)Department of Endocrinology and Metabolism, Baskent University Faculty of Medicine, Ankara, Turkey. alptekingursoy@hotmail.com OBJECTIVE: Amiodarone-induced thyrotoxicosis (AIT) is usually classified into two types: type 1, in which a high iodine content triggers the autonomous production of thyroid hormone; and type 2, in which destructive thyroiditis causes the release of preformed thyroid hormone. AIT is a difficult management problem that sometimes requires ablative thyroid therapy. The use of radioactive iodine (RAI) therapy in patients with type-1 AIT who had a 24-hour radioactive iodine uptake (RAIU) value of >10% has been previously reported. Despite its documented efficacy at usual doses (10-30 mCi) in patients with type-1 AIT, the efficacy of RAI in those with type-2 AIT has never been questioned, because type-2 patients usually have low RAIU. We thought that high adjusted-dose RAI might be an attractive alternative to thyroid gland ablation in patients with type-2 AIT. PATIENTS AND METHODS: Four patients with type-2 AIT who required thyroid ablation were included in the study. These individuals were either poor candidates for surgery or had refused surgery. The size of the thyroid gland in all subjects was within normal limits, and each thyroid was characterized by a homogenous echotexture on ultrasonography, the absence of vascularity on Doppler sonography, a low (<4%) 24-hour RAIU value and the absence of thyroid autoantibodies-all of which are characteristic of type-2 AIT. RESULTS: The patients were initially treated with thionamides and glucocorticoids. All patients except one achieved euthyroidism before RAI therapy. All four patients received one dose of RAI (range 29-80 mCi) and followed up for 12 months. No exacerbation of thyrotoxicosis was noted after RAI therapy. Hypothyroidism (in three patients) or euthyroidism (in one patient) was achieved in first six months. CONCLUSIONS: In patients with type-2 AIT, RAI treatment may be the therapy of choice for thyroid gland ablation. DOI: 10.1016/s0027-9684(15)31348-1 PMID: 18595575 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22130792
1. J Clin Endocrinol Metab. 2012 Feb;97(2):499-506. doi: 10.1210/jc.2011-2390. Epub 2011 Nov 30. Treatment of amiodarone-induced thyrotoxicosis type 2: a randomized clinical trial. Eskes SA(1), Endert E, Fliers E, Geskus RB, Dullaart RP, Links TP, Wiersinga WM. Author information: (1)Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam 1105AZ, The Netherlands. s.eskes@sfg.nl CONTEXT: Amiodarone-induced thyrotoxicosis (AIT) type 2 is self-limiting in nature, but most physicians are reluctant to continue amiodarone. When prednisone fails to restore euthyroidism, possibly due to mixed cases of AIT type 1 and 2, perchlorate (ClO(4)) might be useful because ClO(4) reduces the cytotoxic effect of amiodarone on thyrocytes. OBJECTIVES: Our objectives were to demonstrate the feasibility of continuation of amiodarone in AIT type 2 and to evaluate the usefulness of ClO(4) (given alone or in combination with prednisone) in AIT type 2. DESIGN AND SETTING: A randomized multicenter study was conducted in 10 Dutch hospitals. METHODS: Patients with AIT type 2 were randomized to receive prednisone 30 mg/d (group A, n = 12), sodium perchlorate 500 mg twice daily (group B, n = 14), or prednisone plus perchlorate (group C, n = 10); all patients continued amiodarone and were also treated with methimazole 30 mg/d. Follow-up was 2 yr. MAIN OUTCOME MEASURES: Treatment efficacy (defined as TSH values ≥ 0.4 mU/liter under continuation of amiodarone) and recurrent thyrotoxicosis were evaluated. RESULTS: Initial therapy was efficacious in 100, 71, and 100% of groups A, B, and C, respectively (P = 0.03). The 29% failures in group B became euthyroid after addition of prednisone. Neither the time to reach TSH of 0.4 mU/liter or higher [8 wk (4-20), 14 wk (4-32), and 12 wk (4-28) in groups A, B, and C respectively] nor the time to reach free T(4) of 25 pmol/liter or below [4 wk (4-20), 12 wk (4-20), and 8 wk (4-20) in groups A, B, and C) were significantly different between groups (values as median with range). Recurrent thyrotoxicosis occurred in 8.3%. CONCLUSION: Euthyroidism was reached despite continuation of amiodarone in all patients. Prednisone remains the preferred treatment modality of AIT type 2, because perchlorate given alone or in combination with prednisone had no better outcomes. DOI: 10.1210/jc.2011-2390 PMID: 22130792 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/24009526
1. PLoS Genet. 2013 Aug;9(8):e1003734. doi: 10.1371/journal.pgen.1003734. Epub 2013 Aug 29. Comparative oncogenomic analysis of copy number alterations in human and zebrafish tumors enables cancer driver discovery. Zhang G(1), Hoersch S, Amsterdam A, Whittaker CA, Beert E, Catchen JM, Farrington S, Postlethwait JH, Legius E, Hopkins N, Lees JA. Author information: (1)David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, Massachusetts, United States of America. Comment in Cross-species Array Comparative Genomic Hybridization Identifies Novel Oncogenic Events in Zebrafish and Human Embryonal Rhabdomyosarcoma. The identification of cancer drivers is a major goal of current cancer research. Finding driver genes within large chromosomal events is especially challenging because such alterations encompass many genes. Previously, we demonstrated that zebrafish malignant peripheral nerve sheath tumors (MPNSTs) are highly aneuploid, much like human tumors. In this study, we examined 147 zebrafish MPNSTs by massively parallel sequencing and identified both large and focal copy number alterations (CNAs). Given the low degree of conserved synteny between fish and mammals, we reasoned that comparative analyses of CNAs from fish versus human MPNSTs would enable elimination of a large proportion of passenger mutations, especially on large CNAs. We established a list of orthologous genes between human and zebrafish, which includes approximately two-thirds of human protein-coding genes. For the subset of these genes found in human MPNST CNAs, only one quarter of their orthologues were co-gained or co-lost in zebrafish, dramatically narrowing the list of candidate cancer drivers for both focal and large CNAs. We conclude that zebrafish-human comparative analysis represents a powerful, and broadly applicable, tool to enrich for evolutionarily conserved cancer drivers. DOI: 10.1371/journal.pgen.1003734 PMCID: PMC3757083 PMID: 24009526 [Indexed for MEDLINE] Conflict of interest statement: The authors have declared that no competing interests exist.
http://www.ncbi.nlm.nih.gov/pubmed/22851646
1. Genetics. 2012 Oct;192(2):385-96. doi: 10.1534/genetics.112.142802. Epub 2012 Jul 30. Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. Wallace MD(1), Pfefferle AD, Shen L, McNairn AJ, Cerami EG, Fallon BL, Rinaldi VD, Southard TL, Perou CM, Schimenti JC. Author information: (1)Department of Biomedical Sciences, Cornell University, Ithaca, NY 14853, USA. Identifying genomic alterations driving breast cancer is complicated by tumor diversity and genetic heterogeneity. Relevant mouse models are powerful for untangling this problem because such heterogeneity can be controlled. Inbred Chaos3 mice exhibit high levels of genomic instability leading to mammary tumors that have tumor gene expression profiles closely resembling mature human mammary luminal cell signatures. We genomically characterized mammary adenocarcinomas from these mice to identify cancer-causing genomic events that overlap common alterations in human breast cancer. Chaos3 tumors underwent recurrent copy number alterations (CNAs), particularly deletion of the RAS inhibitor Neurofibromin 1 (Nf1) in nearly all cases. These overlap with human CNAs including NF1, which is deleted or mutated in 27.7% of all breast carcinomas. Chaos3 mammary tumor cells exhibit RAS hyperactivation and increased sensitivity to RAS pathway inhibitors. These results indicate that spontaneous NF1 loss can drive breast cancer. This should be informative for treatment of the significant fraction of patients whose tumors bear NF1 mutations. DOI: 10.1534/genetics.112.142802 PMCID: PMC3454871 PMID: 22851646 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/24214964
1. Nucleic Acids Res. 2014 Jan;42(Database issue):D1048-54. doi: 10.1093/nar/gkt1025. Epub 2013 Nov 7. DriverDB: an exome sequencing database for cancer driver gene identification. Cheng WC(1), Chung IF, Chen CY, Sun HJ, Fen JJ, Tang WC, Chang TY, Wong TT, Wang HW. Author information: (1)Pediatric Neurosurgery, Department of Surgery, Cheng Hsin General Hospital, Taipei 11220, Taiwan, VGH-YM Genomic Research Center, National Yang-Ming University, Taipei 11221, Taiwan, Institute of Biomedical Informatics, National Yang-Ming University, Taipei 11221, Taiwan, Information Technology Office, Taipei Veterans General Hospital, Taipei 11217, Taiwan, Institute of Microbiology and Immunology, National Yang-Ming University, Taipei 11221, Taiwan and Department of Education and Research, Taipei City Hospital, Taipei 10341, Taiwan. Exome sequencing (exome-seq) has aided in the discovery of a huge amount of mutations in cancers, yet challenges remain in converting oncogenomics data into information that is interpretable and accessible for clinical care. We constructed DriverDB (http://ngs.ym.edu.tw/driverdb/), a database which incorporates 6079 cases of exome-seq data, annotation databases (such as dbSNP, 1000 Genome and Cosmic) and published bioinformatics algorithms dedicated to driver gene/mutation identification. We provide two points of view, 'Cancer' and 'Gene', to help researchers to visualize the relationships between cancers and driver genes/mutations. The 'Cancer' section summarizes the calculated results of driver genes by eight computational methods for a specific cancer type/dataset and provides three levels of biological interpretation for realization of the relationships between driver genes. The 'Gene' section is designed to visualize the mutation information of a driver gene in five different aspects. Moreover, a 'Meta-Analysis' function is provided so researchers may identify driver genes in customer-defined samples. The novel driver genes/mutations identified hold potential for both basic research and biotech applications. DOI: 10.1093/nar/gkt1025 PMCID: PMC3965046 PMID: 24214964 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/11577024
1. Circ Res. 2001 Sep 28;89(7):591-8. doi: 10.1161/hh1901.096706. Regulation of thyroid hormone receptor isoforms in physiological and pathological cardiac hypertrophy. Kinugawa K(1), Yonekura K, Ribeiro RC, Eto Y, Aoyagi T, Baxter JD, Camacho SA, Bristow MR, Long CS, Simpson PC. Author information: (1)Division of Cardiology, University of Colorado Health Sciences Center, Denver, CO, USA. Physiological and pathological cardiac hypertrophy have directionally opposite changes in transcription of thyroid hormone (TH)-responsive genes, including alpha- and beta-myosin heavy chain (MyHC) and sarcoplasmic reticulum Ca(2+)-ATPase (SERCA), and TH treatment can reverse molecular and functional abnormalities in pathological hypertrophy, such as pressure overload. These findings suggest relative hypothyroidism in pathological hypertrophy, but serum levels of TH are usually normal. We studied the regulation of TH receptors (TRs) beta1, alpha1, and alpha2 in pathological and physiological rat cardiac hypertrophy models with hypothyroid- and hyperthyroid-like changes in the TH target genes, alpha- and beta-MyHC and SERCA. All 3 TR subtypes in myocytes were downregulated in 2 hypertrophy models with a hypothyroid-like mRNA phenotype, phenylephrine in culture and pressure overload in vivo. Myocyte TRbeta1 was upregulated in models with a hyperthyroid-like phenotype, TH (triiodothyronine, T3), in culture and exercise in vivo. In myocyte culture, TR overexpression, or excess T3, reversed the effects of phenylephrine on TH-responsive mRNAs and promoters. In addition, TR cotransfection and treatment with the TRbeta1-selective agonist GC-1 suggested different functional coupling of the TR isoforms, TRbeta1 to transcription of beta-MyHC, SERCA, and TRbeta1, and TRalpha1 to alpha-MyHC transcription and increased myocyte size. We conclude that TR isoforms have distinct regulation and function in rat cardiac myocytes. Changes in myocyte TR levels can explain in part the characteristic molecular phenotypes in physiological and pathological cardiac hypertrophy. DOI: 10.1161/hh1901.096706 PMID: 11577024 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22833515
1. Eur Heart J. 2013 Sep;34(36):2839-49. doi: 10.1093/eurheartj/ehs218. Epub 2012 Jul 24. Heart rate reduction by If-inhibition improves vascular stiffness and left ventricular systolic and diastolic function in a mouse model of heart failure with preserved ejection fraction. Reil JC(1), Hohl M, Reil GH, Granzier HL, Kratz MT, Kazakov A, Fries P, Müller A, Lenski M, Custodis F, Gräber S, Fröhlig G, Steendijk P, Neuberger HR, Böhm M. Author information: (1)Klinik für Innere Medizin III, Kardiologie, Angiologie und Internistische Intensivmedizin, Universitätsklinikum des Saarlandes, Kirrberger Straße D 66421, Homburg/Saar, Germany. AIMS: In diabetes mellitus, heart failure with preserved ejection fraction (HFPEF) is a significant comorbidity. No therapy is available that improves cardiovascular outcomes. The aim of this study was to characterize myocardial function and ventricular-arterial coupling in a mouse model of diabetes and to analyse the effect of selective heart rate (HR) reduction by If-inhibition in this HFPEF-model. METHODS AND RESULTS: Control mice, diabetic mice (db/db), and db/db mice treated for 4 weeks with the If-inhibitor ivabradine (db/db-Iva) were compared. Aortic distensibility was measured by magnetic resonance imaging. Left ventricular (LV) pressure-volume analysis was performed in isolated working hearts, with biochemical and histological characterization of the cardiac and aortic phenotype. In db/db aortic stiffness and fibrosis were significantly enhanced compared with controls and were prevented by HR reduction in db/db-Iva. Left ventricular end-systolic elastance (Ees) was increased in db/db compared with controls (6.0 ± 1.3 vs. 3.4 ± 1.2 mmHg/µL, P < 0.01), whereas other contractility markers were reduced. Heart rate reduction in db/db-Iva lowered Ees (4.0 ± 1.1 mmHg/µL, P < 0.01), and improved the other contractility parameters. In db/db active relaxation was prolonged and end-diastolic capacitance was lower compared with controls (28 ± 3 vs. 48 ± 8 μL, P < 0.01). These parameters were ameliorated by HR reduction. Neither myocardial fibrosis nor hypertrophy were detected in db/db, whereas titin N2B expression was increased and phosphorylation of phospholamban was reduced both being prevented by HR reduction in db/db-Iva. CONCLUSION: In db/db, a model of HFPEF, selective HR reduction by If-inhibition improved vascular stiffness, LV contractility, and diastolic function. Therefore, If-inhibition might be a therapeutic concept for HFPEF, if confirmed in humans. DOI: 10.1093/eurheartj/ehs218 PMCID: PMC3858102 PMID: 22833515 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17245797
1. Pharmacoepidemiol Drug Saf. 2007 Mar;16(3):289-96. doi: 10.1002/pds.1337. Identification of abacavir hypersensitivity reaction in health care claims data. Nordstrom BL(1), Norman HS, Dube TJ, Wilcox MA, Walker AM. Author information: (1)i3 Drug Safety, Auburndale, MA, USA. PURPOSE: Abacavir is associated with an infrequent but potentially serious hypersensitivity reaction (HSR) that can include a wide range of signs and symptoms. Identification of this reaction through medical insurance claims could provide a simple and efficient means of monitoring the incidence of abacavir hypersensitivity in large populations of patients. METHODS: Using data from a safety study of 948 abacavir users with 22 hypersensitivity events identified from claims and validated through medical record review, we used a recursive partitioning analysis to construct an algorithm to differentiate between patients with and without validated adverse events. Bootstrap resampling techniques provided validation for the analysis. RESULTS: The analysis produced a classification tree with three decision nodes that comprised the best indicators of HSRs. The predictors included any one of several specific symptoms commonly found with this reaction, a claims diagnosis of adverse effect of drug, anaphylactic shock or unspecified allergy, and a discontinuation in abacavir prior to completing a 90-day course of therapy. The algorithm demonstrated 95% sensitivity and 90% specificity when tested using a bootstrap resampling approach with the current data. CONCLUSIONS: A sensitive and specific algorithm for identifying abacavir hypersensitivity from claims was created. This algorithm would permit efficient identification of charts for medical review. Further testing of the algorithm with additional medical claims data for abacavir users will be required to ascertain its validity across databases. (c) 2007 John Wiley & Sons, Ltd. DOI: 10.1002/pds.1337 PMID: 17245797 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20005474
1. Trends Cardiovasc Med. 2009 Jul;19(5):152-7. doi: 10.1016/j.tcm.2009.09.002. Heart rate reduction by I(f)-channel inhibition and its potential role in heart failure with reduced and preserved ejection fraction. Reil JC(1), Reil GH, Böhm M. Author information: (1)Klinik für Innere Medizin III, University of the Saarland, Homburg Saar, Germany. reil@med-in.uni-saarland.de Selective heart rate (HR) reduction by I(f)-channel inhibition is a recently developed pharmacological principle in cardiovascular therapy. Among these newly identified HR-lowering drugs, only ivabradine has now become approved for clinical use. I(f)-channel inhibition mainly reduces HR, thereby improving myocardial oxygen supply, energy balance, and cardiac function. Ivabradine was well tolerated and revealed a good safety profile in the investigated study populations. The guiding experimental and clinical results of I(f)-channel inhibition were compared to those of beta-blockade as a HR reducing principle as well as cornerstone of heart failure standard therapy. Beside its use in therapy of coronary artery disease, I(f)-channel inhibition potentially exhibits beneficial effects in systolic and diastolic heart failure as well. Therefore, hemodynamic effects of ivabradine and its limitations in heart failure together with the biological impact of HR reduction will be considered in this context. Because no clinical data with specific heart-rate-reducing agents are available in heart failure patients until now, the prospective significance of I(f)-channel inhibition can only be speculated on. However, the presented results and considerations are encouraging: ivabradine may play a therapeutic role in the future protecting left ventricular function and structure from early deterioration in heart failure with reduced and preserved ventricular ejection fraction. DOI: 10.1016/j.tcm.2009.09.002 PMID: 20005474 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22260378
1. Ren Fail. 2012;34(3):364-72. doi: 10.3109/0886022X.2011.647342. Epub 2012 Jan 20. Serum T3 level can predict cardiovascular events and all-cause mortality rates in CKD patients with proteinuria. Yang JW(1), Han ST, Song SH, Kim MK, Kim JS, Choi SO, Han BG. Author information: (1)Department of Nephrology, Wonju College of Medicine, Yonsei University, Wonju, Gangwon-do, South Korea. BACKGROUND: Patients with proteinuria frequently show changes in thyroid hormone levels. Serum T3 depression predicts a negative outcome in chronic kidney disease (CKD) patients and may be associated with cardiovascular complications or chronic inflammation. Few studies have explored the relationship between thyroid hormone dysregulation and clinical outcome in patients with proteinuria. METHODS: We reviewed thyroid function test results obtained from 211 patients with 24 h urinary protein excretion greater than 150 mg/day and found a correlation of thyroid hormone level with cardiovascular events and mortality. RESULTS: T3 decreased with age (p = 0.001) and 24 h urine albumin (p = 0.028). Free T4 decreased in accordance with 24 h urine protein and serum creatinine (p = 0.034 and p = 0.033, respectively). In the Kaplan-Meier survival analysis, lower cumulative survival, higher cardiovascular events, and mortality were found in the low T3 group compared with the normal T3 group (p = 0.000, p = 0.013, and p = 0.001, respectively). In Cox regression analysis, we observed that, with low T3, decreased sodium, and old age, the incidence of cardiovascular complications (p = 0.000, p = 0.016, and p = 0.000, respectively), cardiovascular mortality (p = 0.000, p = 0.048, and p = 0.001, respectively), and all-cause mortality (p = 0.000, p = 0.017, and p = 0.000, respectively) increased. CONCLUSION: In CKD patients with proteinuria, low T3 concentration predicted all-cause mortality and cardiovascular event independently of the severity of proteinuria. DOI: 10.3109/0886022X.2011.647342 PMID: 22260378 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/8725589
1. Dermatol Clin. 1996 Apr;14(2):339-54. doi: 10.1016/s0733-8635(05)70361-2. Burning mouth syndrome. Lamey PJ(1). Author information: (1)Department of Oral Medicine, School of Clinical Dentistry, Queen's University of Belfast, Northern Ireland. Burning mouth syndrome is a common condition particularly affecting elderly women. Numerous precipitating factors are recognized that lead to a burning sensation in clinically normal mucosa. By taking each precipitating factor into account, a favorable treatment outcome usually can be achieved. This article highlights the significance of precipitating factors in burning mouth syndrome and suggests a treatment protocol based on current scientific evidence. DOI: 10.1016/s0733-8635(05)70361-2 PMID: 8725589 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18855539
1. Pharmacogenomics. 2008 Oct;9(10):1531-41. doi: 10.2217/14622416.9.10.1531. Current trends in screening across ethnicities for hypersensitivity to abacavir. Rodriguez-Nóvoa S(1), Soriano V. Author information: (1)Department of Pharmacokinetics and Pharmacogenomics, Hospital Carlos III, Calle Sinesio Delgado 10, Madrid 28029, Spain. sonia_r_novoa@hotmail.com Abacavir is a potent nucleoside analog reverse transcriptase inhibitor approved for the treatment of HIV infection. Approximately 5-8% of Caucasian patients receiving abacavir develop a hypersensitivity reaction, characterized by rash, fever and, occasionally, multisystemic involvement. Rechallenge with the drug can be fatal. The discovery of the mechanisms involved in this hypersensitivity reaction and the identification of tools for its prediction are the subject of this review. The most relevant finding is the recognition of a strong association between one specific haplotype at the HLA complex type I, HLA-B*5701, and the abacavir hypersensitivity reaction. The heterogeneity in the prevalence of HLA-B*5701 across distinct ethnicities accounts for differences in the risk of abacavir hypersensitivity reactions in distinct populations. DOI: 10.2217/14622416.9.10.1531 PMID: 18855539 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/14704232
1. Am J Physiol Heart Circ Physiol. 2004 May;286(5):H1696-705. doi: 10.1152/ajpheart.00761.2003. Epub 2004 Jan 2. Exercise training improves cardiac function-related gene levels through thyroid hormone receptor signaling in aged rats. Iemitsu M(1), Miyauchi T, Maeda S, Tanabe T, Takanashi M, Matsuda M, Yamaguchi I. Author information: (1)Cardiovascular Division, Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki 305-8575, Japan. Exercise training improves the aging-induced downregulation of myosin heavy chain (MHC) and sarcoplasmic reticulum (SR) Ca(2+)-ATPase, which participate in the regulation of cardiac contraction and relaxation. Thyroid hormone receptor (TR), a transcriptional activator, affected the regulation of gene expression of MHC and SR Ca(2+)-ATPase. We hypothesized that myocardial TR signaling contributes to a molecular mechanism of exercise training-induced improvement of MHC and SR Ca(2+)-ATPase genes with cardiac function in old age. We investigated whether TR signaling and gene expression of MHC and SR Ca(2+)-ATPase in the aged heart are affected by exercise training, using the hearts of sedentary young rats (4 mo old), sedentary aged rats (23 mo old), and trained aged rats (23 mo old, swimming training for 8 wk). Trained aged rats showed improvement in cardiac function. Expression of TR-alpha1 and TR-beta1 proteins in the heart were significantly lower in sedentary aged rats than in sedentary young rats and were significantly higher in trained aged rats than in sedentary aged rats. The activity of TR DNA binding to the transcriptional regulatory region in the alpha-MHC and SR Ca(2+)-ATPase genes and the mRNA and protein expression of alpha-MHC and SR Ca(2+)-ATPase in the heart and plasma 3,3'-triiodothyronine and thyroxine levels were altered in association with changes in the myocardial TR protein levels. These findings suggest that exercise training improves the aging-induced downregulation of myocardial TR signaling-mediated transcription of MHC and SR Ca(2+)-ATPase genes, thereby contributing to the improvement of cardiac function in trained aged hearts. DOI: 10.1152/ajpheart.00761.2003 PMID: 14704232 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18211669
1. BMC Endocr Disord. 2008 Jan 22;8:1. doi: 10.1186/1472-6823-8-1. Relating circulating thyroid hormone concentrations to serum interleukins-6 and -10 in association with non-thyroidal illnesses including chronic renal insufficiency. Abo-Zenah HA(1), Shoeb SA, Sabry AA, Ismail HA. Author information: (1)Department Of Internal Medicine, Faculty of Medicine, Menufiya University, Egypt. abozenahamdy@hotmail.com BACKGROUND: Because of the possible role of cytokines including interleukins (IL) in systemic non-thyroidal illnesses' (NTI) pathogenesis and consequently the frequently associated alterations in thyroid hormone (TH) concentrations constituting the euthyroid sick syndrome (ESS), we aimed in this research to elucidate the possible relation between IL-6 & IL-10 and any documented ESS in a cohort of patients with NTI. METHODS: Sixty patients and twenty healthy volunteers were recruited. The patients were subdivided into three subgroups depending on their underlying NTI and included 20 patients with chronic renal insufficiency (CRI), congestive heart failure (CHF), and ICU patients with myocardial infarction (MI). Determination of the circulating serum levels of IL-6 and IL-10, thyroid stimulating hormone (TSH), as well as total T4 and T3 was carried out. RESULTS: In the whole group of patients, we detected a significantly lower T3 and T4 levels compared to control subjects (0.938 +/- 0.477 vs 1.345 +/- 0.44 nmol/L, p = 0.001 and 47.9 +/- 28.41 vs 108 +/- 19.49 nmol/L, p < 0.0001 respectively) while the TSH level was normal (1.08+0.518 muIU/L). Further, IL-6 was substantially higher above controls' levels (105.18 +/- 72.01 vs 3.35 +/- 1.18 ng/L, p < 0.00001) and correlated negatively with both T3 and T4 (r = -0.620, p < 0.0001 & -0.267, p < 0.001, respectively). Similarly was IL-10 level (74.13 +/- 52.99 vs 2.64 +/- 0.92 ng/ml, p < 0.00001) that correlated negatively with T3 (r = -0.512, p < 0.0001) but not T4. Interestingly, both interleukins correlated positively (r = 0.770, p = <0.001). Moreover, IL-6 (R2 = 0.338, p = 0.001) and not IL-10 was a predictor of low T3 levels with only a borderline significance for T4 (R2 = 0.082, p = 0.071).By subgroup analysis, the proportion of patients with subnormal T3, T4, and TSH levels was highest in the MI patients (70%, 70%, and 72%, respectively) who displayed the greatest IL-6 and IL-10 concentrations (192.5 +/- 45.1 ng/L & 122.95 +/- 46.1 ng/L, respectively) compared with CHF (82.95 +/- 28.9 ng/L & 69.05 +/- 44.0 ng/L, respectively) and CRI patients (40.05 +/- 28.9 ng/L & 30.4 +/- 10.6 ng/L, respectively). Surprisingly, CRI patients showed the least disturbance in IL-6 and IL-10 despite the lower levels of T3, T4, and TSH in a higher proportion of them compared to CHF patients (40%, 45%, & 26% vs 35%, 25%, & 18%, respectively). CONCLUSION: the high prevalence of ESS we detected in NTI including CRI may be linked to IL-6 and IL-10 alterations. Further, perturbation of IL-6 and not IL-10 might be involved in ESS pathogenesis although it is not the only key player as suggested by our findings in CRI. DOI: 10.1186/1472-6823-8-1 PMCID: PMC2254394 PMID: 18211669
http://www.ncbi.nlm.nih.gov/pubmed/15055637
1. Gen Dent. 2003 Sep-Oct;51(5):458-61; quiz 462. Burning mouth syndrome: a guide for the general practitioner. Pinto A(1), Stoopler ET, DeRossi SS, Sollecito TP, Popovic R. Author information: (1)Department of Oral Medicine, University of Pennsylvania School of Dental Medicine, Philadelphia, USA. A commonly misdiagnosed condition, burning mouth syndrome (BMS) is characterized by burning sensations of the oral cavity in the absence of physical abnormalities of the oral mucosa. BMS affects middle-aged women predominantly. This condition has a multifactorial etiology, although several conditions have been associated with BMS, including depression/anxiety, hematinic deficiencies (iron, folate, and vitamin B complex), oral habits such as tongue thrusting and bruxism, and idiopathic BMS. Multiple approaches to treatment have been described in the literature, although few controlled clinical trials have been designed to determine their efficacy. This article examines BMS, its related factors, and treatment options available to the general dentist. PMID: 15055637 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/999108
1. Ann Intern Med. 1976 Dec;85(6):724-30. doi: 10.7326/0003-4819-85-6-724. Thyroid function and metabolic state in chronic renal failure. Spector DA, Davis PJ, Helderman JH, Bell B, Utiger RD. Thirty-eight patients with chronic renal insufficiency who were in a dialysis program underwent studies of thyroid function and metabolic status. Mean values for serum total and free thyroxine (T4) concentrations and thyroxine-binding globulin capacity were within normal limits. Although mean serum total triiodothyronine (T3) concentration was normal, 43% of the group had low serum T3 and 54% had low serum free T3 concentrations. Serum thyrotrophin (TSH) concentrations were normal in all but four subjects who had very slight elevations. Metabolic status was assessed by various metabolic tests; mean values for each of these tests were normal, and the clinical index scores indicated that all patients were euthyroid. Results of metabolic testing were similar in patients with low and those with normal serum T3 concentrations. Low serum T3 measurements did not accurately reflect metabolic state in patients with chronic renal failure, whereas serum free T4 and TSH concentrations were reliable indicators of thyroid state. DOI: 10.7326/0003-4819-85-6-724 PMID: 999108 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19622616
1. J Clin Endocrinol Metab. 2009 Oct;94(10):3757-62. doi: 10.1210/jc.2009-0940. Epub 2009 Jul 21. Glucocorticoids are preferable to thionamides as first-line treatment for amiodarone-induced thyrotoxicosis due to destructive thyroiditis: a matched retrospective cohort study. Bogazzi F(1), Tomisti L, Rossi G, Dell'Unto E, Pepe P, Bartalena L, Martino E. Author information: (1)Department of Endocrinology and Metabolism, University of Pisa, 56124 Pisa, Italy. f.bogazzi@endoc.med.unipi.it CONTEXT: Type 2 amiodarone-induced thyrotoxicosis (AIT) is a destructive thyroiditis usually responsive to glucocorticoids; however, recent surveys showed that many expert thyroidologists worldwide use thionamides for type 2 AIT patients. OBJECTIVE: The objective of the study was to compare the effectiveness of methimazole (MMI) or prednisone (GLU) in type 2 AIT patients who had a short cure time according to a published predictive model. DESIGN: This was a matched retrospective cohort study. SETTING: The study was conducted at a university center. PATIENTS: Forty-two untreated type 2 AIT patients with a predicted cure time < or = 40 d were divided into two groups (MMI and GLU groups). After matching for the predicted cure time, patients in the GLU group were selected in a 1:1 ratio to patients in the MMI group. INTERVENTION: Patients were treated with GLU or MMI for 40 d. Patients still thyrotoxic after 40 d continued glucocorticoids if in the GLU group or were switched to prednisone (MMI-GLU group) if in the MMI group. MAIN OUTCOME MEASURE: Time and rate of cure (healing) at 40 d were measured. RESULTS: Patients still thyrotoxic after 40 d were 23.8 +/- 9.3% in the GLU group and 85.7 +/- 7.6% in the MMI group (P = 0.000). The GLU and MMI-GLU groups did not significantly differ in the nonhealing rate at 40 d (P = 0.730). When patients in the MMI group were treated with glucocorticoids, 94.1% patients achieved euthyroidism within 40 d. However, the global median cure time (MMI period + prednisone period) was longer (60 d, 95% confidence interval 53.5-66.5 d) in the MMI-GLU group than the GLU group (21 d, 95% confidence interval 15.1-26.9 d). CONCLUSIONS: Glucocorticoids are the first-line treatment in type 2 AIT, whereas thionamides play no role in this destructive thyroiditis. DOI: 10.1210/jc.2009-0940 PMID: 19622616 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/10431669
1. Cutis. 1999 Jul;64(1):29-35. A review of burning mouth syndrome. Muzyka BC(1), De Rossi SS. Author information: (1)Louisiana State University Medical Center, School of Dentistry, New Orleans 70119, USA. Burning mouth syndrome is a complicated, poorly understood, predominantly oral condition that affects more than 1 million people in the United States. Women are particularly affected by the condition; they are diagnosed with symptoms seven times more frequently than males. Burning mouth syndrome is characterized by a burning, painful sensation of the oral mucosa that most commonly involves the anterior tongue. Many precipitating factors to burning mouth syndrome have been proposed, and treatment addressing these factors has had limited success. Patients with burning mouth syndrome are more likely to be evaluated by physicians, and therefore it is advantageous for the physician to be familiar with this oral condition. This paper reviews burning mouth syndrome, associated causative factors, and treatment strategies for the physician. PMID: 10431669 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/16142094
1. Ann Otolaryngol Chir Cervicofac. 2005 Jun;122(3):146-9. doi: 10.1016/s0003-438x(05)82340-0. [Cognitive-behavioral therapy in the burning mouth syndrome--a new approach]. [Article in French] Bonfils P(1), Peignard P, Malinvaud D. Author information: (1)Formation Associée Claude Bernard et Unité CNRS UPRESSA 7060, Hôpital Européen Georges Pompidou, Faculté Necker -- Enfants Malades, Université René Descartes, 20 rue Leblanc, F-75015 Paris. pierre.bonfils@egp.ap-hop-paris.fr OBJECTIVE: The aim of this study is to present a new approach of burning mouth syndrome treatment by cognitive and behavioral therapy. METHODS: Cognitive and behavioral therapy in a patient with severe and resistant burning mouth syndrome. RESULTS: Disappearing of the oral pain of the burning mouth syndrome. CONCLUSION: After a review of the literature, we propose the treatment of burning mouth syndrome by cognitive and behavioral therapy. DOI: 10.1016/s0003-438x(05)82340-0 PMID: 16142094 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17439072
1. Recenti Prog Med. 2007 Feb;98(2):120-8. [Burning mouth syndrome]. [Article in Italian] Scardina GA(1), Pisano T, Messina P. Author information: (1)Dipartimento di Scienze Stomatologiche G. Messina, Sezione di Odontostomatologia, Università, Palermo. scardina@odonto.unipa.it Burning mouth syndrome (BMS) is characterized by burning sensations of the oral cavity in the absence of abnormalities of the oral mucosa. BMS predominantly affects middle-aged women. This condition has a multifactorial etiology. Multiple approaches to treatment have been described. This article examines BMS, its related factors, and treatment options. PMID: 17439072 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/18985004
1. Kulak Burun Bogaz Ihtis Derg. 2008 May-Jun;18(3):188-96. Burning mouth syndrome. Boy-Metin Z(1), Kayhan KB, Unür M. Author information: (1)Department of Oral Surgery and Medicine, Faculty of Dentistry, Istanbul University, Istanbul, Turkey. zeynepboy@yahoo.com Burning mouth syndrome (BMS) is characterized by oral burning or similar pain in the absence of detectable oral mucosa changes. This condition is more common among middle-aged and elderly women. Although various local, systemic, and psychological factors are considered to be possible causes of BMS, it is still a challenge in the field of oral medicine. The aim of this review was to discuss several aspects of BMS, update current knowledge, and provide guidelines for patient management. PMID: 18985004 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22881233
1. Physiol Res. 2012;61(5):495-501. doi: 10.33549/physiolres.932321. Epub 2012 Aug 8. Thyroid hormone abnormalities in hemodialyzed patients: low triiodothyronine as well as high reverse triiodothyronine are associated with increased mortality. Horáček J(1), Dusilová Sulková S, Kubišová M, Safránek R, Malířová E, Kalousová M, Svilias I, Malý J, Sobotka L, Zák P. Author information: (1)Department of Internal Medicine IV, Faculty of Medicine and University Hospital Hradec Králové, Charles University in Prague, Hradec Králové, Czech Republic. horacek9@gmail.com Numerous abnormalities of thyroid hormones in end-stage renal disease (ESRD) have been described. Our aim was to analyze the impact of these abnormalities on survival. In 167 hemodialyzed ESRD patients, TSH and thyroid hormone levels (T4, fT4, T3, fT3, rT3) were determined. The patients were then prospectively followed up for up to 5 years and the possible impact of any observed abnormalities on their mortality was studied. Only 16.8 % patients had all six tests within the reference range. The pattern of nonthyroidal illness syndrome was found in 56.3 %. Low T3 was particularly common (44.3 %), and clearly associated with increased 6- and 12-month mortality and decreased overall survival (log rank test, P=0.007). Independent of T3 levels (Spearman correlation, NS), increased rT3 was more frequently observed (9.9 %) than expected from the literature, and was also related to increased mortality and decreased survival (log rank test, P=0.021). Increased rT3 may be more common in ESRD patients than previously described, and together with decreased T3 it may serve as an indicator of poor prognosis in subsequent months. DOI: 10.33549/physiolres.932321 PMID: 22881233 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/19450321
1. BMJ Clin Evid. 2008 Mar 14;2008:1301. Burning mouth syndrome. Buchanan J(1), Zakrzewska J. Author information: (1)Barts and The London School of Medicine and Dentistry, Dental Institute, Royal London Hospital, London, UK. INTRODUCTION: Burning mouth syndrome mainly affects women, particularly after the menopause, when its prevalence may be 18-33%. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of treatments for burning mouth syndrome? We searched: Medline, Embase, The Cochrane Library, and other important databases up to February 2007 (Clinical Evidence reviews are updated periodically, please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). RESULTS: We found 12 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. CONCLUSIONS: In this systematic review we present information relating to the effectiveness and safety of the following interventions: anaesthetics (local), antidepressants, benzodiazepines (topical clonazepam), benzydamine hydrochloride, cognitive behavioural therapy (CBT), dietary supplements, and hormone replacement therapy (HRT) in postmenopausal women. PMCID: PMC2907957 PMID: 19450321 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/17967714
1. J Diabetes Complications. 2007 Nov-Dec;21(6):397-402. doi: 10.1016/j.jdiacomp.2006.08.001. Burning mouth syndrome and peripheral neuropathy in patients with type 1 diabetes mellitus. Moore PA(1), Guggenheimer J, Orchard T. Author information: (1)Oral Health Science Institute, University of Pittsburgh School of Dental Medicine, Pittsburgh, PA 15206, USA. pam7@pitt.edu OBJECTIVE: Burning mouth syndrome (BMS) has been attributed secondarily to diabetes, poor glycemic control, and diabetic neuropathy. The prevalence and predictor factors of BMS were compared in type 1 diabetes mellitus (T1DM) and nondiabetic subjects. STUDY DESIGN: An assessment of 371 adult T1DM subjects and 261 control subjects participating in a cross-sectional epidemiological study of oral health complications of diabetes was performed. Subjects were participants of the Pittsburgh Epidemiology of Diabetes Complications study. Prevalence of BMS was determined by response to the following questions: "Do you now or in the last month had any persistent uncomfortable sensations in your mouth or tongue? If yes, would you describe the feeling as tingling, burning, sore, numb, or other?" RESULTS: Burning mouth syndrome symptoms were reported by 28 T1DM and control subjects (4.6%). Eleven had oral pathologies that might explain the BMS, including atrophy of the tongue papillae, fissured tongue, denture stomatitis, and candidiasis. The prevalence of BMS within the two groups with no pathologies was similar; 12/371 (3.2%) vs. 5/233 (2.1%). Multivariate analyses of the 12 T1DM subjects with BMS found significant associations for female gender (P=.042) and a diagnosis of diabetic peripheral neuropathy (P=.024). CONCLUSIONS: In this T1DM population, BMS or related discomforts occurred slightly more frequently than in the control group. Symptomatic T1DM subjects were more likely to be female who had also developed peripheral neuropathy. These findings and other similarities between BMS and diabetic peripheral neuropathy suggest that a neuropathic process may be an underlying source of BMS in some patients who have no apparent oral abnormality. DOI: 10.1016/j.jdiacomp.2006.08.001 PMID: 17967714 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/8170453
1. Minerva Stomatol. 1994 Jan-Feb;43(1-2):49-55. [The burning mouth syndrome. A clinical study]. [Article in Italian] Trombelli L(1), Zangari F, Calura G. Author information: (1)Istituto di Clinica Odontostomatologica, Università degli Studi di Ferrara. Burning mouth syndrome (BMS) is a distinct clinical entity characterized by a chief complaint of unremitting oral burning concomitant with no oral mucosal clinically observable lesions. Numerous causes of this condition have been suggested, including local factors, systemic factors, and psychogenic disorders. A total of 36 consecutive subjects, 32 women and 4 men, complaining of BMS, who had attended the Dental Clinic of the University of Ferrara during a period of 2 years, was studied. The method of assessment followed closely a strictly co-ordinated management protocol based on conventional guidelines, namely history, clinical examination and special investigations. A detailed history was taken of duration of the condition, site affected, and pattern of burning. The severity and the response to treatment were assessed with a Visual Linear Analogue Scale (VLAS). A full medical history was taken, with regard to xerostomia-inducing drug assumption. The presence and the severity of menopausal symptoms were explored. Inquiries were made on use of mouthwashes. For the denture-wearers, specific questioning was directed to the length of denture-wearing experience, temporal association of the symptom with the wearing of dentures, relationship to burning sensation of any relines or repairs, denture cleaning technique, and use of fixatives. A complete routine intraoral and extraoral examination was performed. The presence of parafunctional habits, such as tongue thrusting, clenching, grinding, lip and cheek biting, was investigated. If dentures were worn, their design and condition were examined. In particular, the relation between the vertical and horizontal components of the jaw and the denture base extension was assessed and the freeway space measured.(ABSTRACT TRUNCATED AT 250 WORDS) PMID: 8170453 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/11871678
1. Am Fam Physician. 2002 Feb 15;65(4):615-20. Burning mouth syndrome. Grushka M(1), Epstein JB, Gorsky M. Author information: (1)William Osler Health Center, Toronto, Ontario, Canada. mgrushka@yahoo.com Burning mouth syndrome is characterized by a burning sensation in the tongue or other oral sites, usually in the absence of clinical and laboratory findings. Affected patients often present with multiple oral complaints, including burning, dryness and taste alterations. Burning mouth complaints are reported more often in women, especially after menopause. Typically, patients awaken without pain but note increasing symptoms through the day and into the evening. Conditions that have been reported in association with burning mouth syndrome include chronic anxiety or depression, various nutritional deficiencies, type 2 diabetes (formerly known as non-insulin-dependent diabetes) and changes in salivary function. However, these conditions have not been consistently linked with the syndrome, and their treatment has had little impact on burning mouth symptoms. Recent studies have pointed to dysfunction of several cranial nerves associated with taste sensation as a possible cause of burning mouth syndrome. Given in low dosages, benzodiazepines, tricyclic antidepressants or anticonvulsants may be effective in patients with burning mouth syndrome. Topical capsaicin has been used in some patients. PMID: 11871678 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/22612823
1. Gerodontology. 2012 Jun;29(2):84-9. doi: 10.1111/j.1741-2358.2010.00384.x. Aetiology and therapeutics of burning mouth syndrome: an update. Spanemberg JC(1), Cherubini K, de Figueiredo MA, Yurgel LS, Salum FG. Author information: (1)Stomatology and Bucomaxillofacial Cancer Prevent Division, São Lucas Hospital, Pontifical Catholical University of Rio Grande do Sul (PUCRS), Porto Alegre, Brazil. OBJECTIVE: To provide a review on the aetiology and therapeutic options for the management of patients with burning mouth syndrome (BMS). BACKGROUND: BMS is a chronic disorder that frequently affects women and is characterised by burning symptoms of the oral mucosa without clinical signs. This syndrome has a complex and multifactorial characteristics, but its aetiology remains unknown and this makes it difficult with regard to the treatment and management of such patients. Despite not being accompanied by evident organic changes and not presenting risks to health, BMS can significantly reduce the quality of life for patients. METHODS AND MATERIALS: The article reviews the literature regarding aetiologic factors, clinical implications and treatment of BMS. CONCLUSION: involvement of neurological, emotional and hormonal alterations is proposed in BMS aetiology. However the mechanisms of its development are complex and not completely understood. Tricyclic antidepressants, benzodiazepines and antipsychotic drugs are the most accepted options in treatment and show variable results. The correct diagnosis of BMS and the exclusion of possible local or systemic factors that can be associated with the symptoms are fundamental. It is also important to evaluate the quality of life for these patients to recognise the potential impact of this condition on their lives. © 2012 The Gerodontology Society and John Wiley & Sons A/S. DOI: 10.1111/j.1741-2358.2010.00384.x PMID: 22612823 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/20440632
1. Clin Oral Investig. 2011 Aug;15(4):571-5. doi: 10.1007/s00784-010-0419-5. Epub 2010 May 4. Risk factors in burning mouth syndrome: a case-control study based on patient records. Netto FO(1), Diniz IM, Grossmann SM, de Abreu MH, do Carmo MA, Aguiar MC. Author information: (1)Department of Oral Pathology and Maxillofacial Surgery, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Av. Antônio Carlos, 6627 Pampulha, Cep. 31270901 Belo Horizonte, MG, Brazil. Burning mouth syndrome (BMS) is a multifactorial condition which is still poorly understood. The aim of this study was to evaluate a group of patients with BMS, as compared to a control group, and to describe related local and systemic factors. Records of patients referred to the Oral Pathology Service at the School of Dentistry over a period of 7 years were considered for the study, within which 32 patients with a diagnosis of BMS were found. A randomized group matched for age and gender was also evaluated for the study. Data were analyzed statistically using the SPSS 12.0 for Windows. Prevalence of BMS was 0.99% (32 BMS patients/3,243 records), considering that females were more commonly affected than were males and that the majority of the individuals were in their sixties. The univariate analysis performed comparing the two groups revealed statistical differences concerning the presence of gastrointestinal diseases (p = 0.003) and urogenital diseases (p = 0.012). The intake of H-2 receptor antagonist and proton pump inhibitor drugs (p = 0.015) also proved to be significant. Logistic regression analysis confirmed that gastrointestinal and urogenital problems were indeed risk factors that were solely associated with BMS. Although a diversity of related factors could be identified, gastrointestinal problems were the most prevalent, suggesting that the management of BMS patients requires attention and an appropriate approach to such disorders. DOI: 10.1007/s00784-010-0419-5 PMID: 20440632 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/12017897
1. Harefuah. 2002 Apr;141(4):384-7, 407. [Burning mouth syndrome]. [Article in Hebrew] Elad S(1), Czerninski R, Eliay E. Author information: (1)Department of Mouth Medicine, University Hospital Hadassah, Jerusalem, Israel. Burning sensation of the tongue is a common complaint. In some patients this is diagnosed as Burning Mouth Syndrome (BMS). The prevalence of BMS is 0.8-19% of the general population. The typical complaint is localized to the anterior part of the tongue and may be accompanied by dry mouth sensation or taste disorder. The differential diagnosis of BMS is based on the specific details of the complaint, the clinical findings and laboratory results. The patients population consists of mainly post-menopausal women, even though it can appear in younger patients of both genders. The pathogenesis is only partially identified. There are different treatment approaches. PMID: 12017897 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/12618668
1. Med Oral. 2003 Mar-Apr;8(2):84-90. Burning mouth syndrome in the Basque Country: a preliminary study of 30 cases. [Article in English, Spanish] Eguia Del Valle A(1), Aguirre-Urizar JM, Martinez-Conde R, Echebarria-Goikouria MA, Sagasta-Pujana O. Author information: (1)Medicina Bucal, Departamento de Estomatología, Facultad de Medicina y Odontología, Universidad del País Vasco/EHU. otpagurj@lg.ehu.es OBJECTIVES: To know the most important clinical features of Burning Mouth Syndrome (BMS) in our environment. MATERIAL AND METHODS: A prospective study of 30 BMS patients, 29 female and 1 male, with a mean age of 60.2 years (range 37-89), was made. A previously designed clinical protocol, including blood counts, levadure culture, oral pH measurement and non-stimulated salivary flow rate, was completed by all patients. Comparative and descriptive statistical analysis was performed. The Chi-square test was applied (p< 0.05). RESULTS: Moreover of a burning sensation, 60 % of patients presented oral dryness and 60 % dysgeusia. The tongue was the most frequent site affected of burning sensation (66.7 %). Type II of BMS was the most common (53.3%). In women, 82.9 % were postmenopausal. A 13.3 % of patients suffered type II Diabetes, 6.7 % vitamin deficiency and 56.6 % used xerostomy-inducer medication. The 56.6 % of patients showed chronic anxiety and/or depression. The 46.7 % had a deficient oral hygiene level and 44.4 % wore inadequate dentures. Salivary flow rate was decreased in 50 % of patients. Significant levadure growth was not detected in any case. CONCLUSIONS: BMS patients in our environment are principally postmenopausal women, with tongue burning, xerostomy, dysgeusia and chronic anxiety and/or depression. PMID: 12618668 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/8469539
1. Oral Surg Oral Med Oral Pathol. 1993 Mar;75(3):303-7. doi: 10.1016/0030-4220(93)90141-p. Burning mouth syndrome. Evaluation of multiple variables among 85 patients. Maresky LS(1), van der Bijl P, Gird I. Author information: (1)Department of Oral Medicine and Periodontics, Faculty of Dentistry, University of Stellenbosch, Tygerberg, South Africa. The relationship between burning mouth syndrome and 48 variables was investigated in 241 patients, 45 years old and older, who had attended the Oral Medicine Clinic of the Faculty of Dentistry, University of Stellenbosch during a period of 4 years. A total of 85 cases of burning mouth syndrome were diagnosed in 65 women and 20 men. Statistically significant relationships (p < 0.05) were found with self-medication, xerostomia, and other salivary disturbances in both men and women with burning mouth syndrome when compared with their respective controls. Among the women with BMS, significant relationships were also found with anemia, inadequate diet, chronic infection, hormone therapy, ulcerative/erosive lesions, and atrophy. In contrast men with BMS showed statistically significant relationships between taking prescribed medication, central nervous system disturbances, gingivitis, and denture-related problems. In addition, significant associations were related to variables such as psychogenic factors, regurgitation, flatulence, and periodontitis. DOI: 10.1016/0030-4220(93)90141-p PMID: 8469539 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/9237148
1. J Prosthet Dent. 1997 Jul;78(1):93-7. doi: 10.1016/s0022-3913(97)70089-1. Burning mouth syndrome: a review of etiologies. Cibirka RM(1), Nelson SK, Lefebvre CA. Author information: (1)Department of Oral Rehabilitation, School of Dentistry, Medical College of Georgia, Augusta, USA. STATEMENT OF PROBLEM: Dental practitioners occasionally have patients present clinically with a history of chief complaint of burning and painful sensations in the oral cavity. Often the patient demonstrates clinically normal mucosa, which can make formulating a diagnosis challenging. This scenario, has been referred to as burning mouth syndrome, a multifactorial syndrome. PURPOSE: The purpose of this article is to present a review of etiologic factors and clinical implications related to the condition of burning mouth syndrome. DOI: 10.1016/s0022-3913(97)70089-1 PMID: 9237148 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23201368
1. Oral Maxillofac Surg Clin North Am. 2013 Feb;25(1):67-76, vi. doi: 10.1016/j.coms.2012.11.001. Epub 2012 Nov 30. Burning mouth syndrome. Crow HC(1), Gonzalez Y. Author information: (1)Department of Oral Diagnostic Sciences, University at Buffalo, 355 Squire Hall, 3435 Main Street, Buffalo, NY 14214, USA. hccrow@buffalo.edu Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. Copyright © 2013. Published by Elsevier Inc. DOI: 10.1016/j.coms.2012.11.001 PMID: 23201368 [Indexed for MEDLINE]
http://www.ncbi.nlm.nih.gov/pubmed/23050296
1. Int J Pharm Compd. 2012 May-Jun;16(3):196-205. Burning mouth syndrome: a discussion of a complex pathology. Zur E(1). Author information: (1)Super-Pharm, Petach-Tikvah, Israel. eyalz@super-pharm.co.il Burning mouth syndrome is a complex pathology for which there is very little information about the etiology and pathogenesis. This lack of knowledge leaves patients with suboptimal treatments. This article discusses the existing scientific evidence about this disease. Since topical oral use of clonazepam have been shown to be effective and safe to treat some patients suffering with burning mouth syndrome, formulations including clonazepam are included with this article. Compounding topical preparations of clonazepam offers opportunities for compounding pharmacists to be more involved in improving the quality of life of burning mouth syndrome patients. PMID: 23050296 [Indexed for MEDLINE]