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10.1172/jci.insight.99922 http://scihub22266oqcxt.onion/10.1172/jci.insight.99922 C5931135!5931135 !29669943     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=29669943 &cmd=llinks): Failed to open stream: HTTP request failed! 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Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis |pdf=|usr=}}{{29669943 }} gab.com Text Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis JO: JCI Insight http://www.kidney.de/pget.php?&tw=1&pmid=29669943 #FOAvip Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and transketolase domain-containing 1 (DHTKD1). Rare variant burden analysis revealed an overabundance of putative, potentially damaging DHTKD1 mutations in EoE (P = 0.01). Interestingly, we also identified 7 variants in the DHTKD1 homolog oxoglutarate dehydrogenase-like (OGDHL). Using shRNA-transduced esophageal epithelial cells and/or patient fibroblasts, we further showed that disruption of normal DHTKD1 or OGDHL expression blunts mitochondrial function. Finally, we demonstrated that the loss of DHTKD1 expression increased ROS production and induced the expression of viperin, a gene previously shown to be involved in production of Th2 cytokines in T cells. Viperin had increased expression in esophageal biopsies of EoE patients compared with control individuals and was upregulated by IL-13 in esophageal epithelial cells. These data identify a series of rare genetic variants implicating DHTKD1 and OGDHL in the genetic etiology of EoE and underscore a potential pathogenic role for mitochondrial dysfunction in EoE. Twit Text FOAVip Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis ????JCI Insight http://www.kidney.de/pget.php?&tw=1&pmid=29669943 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29669943 #FOAvip English Wikipedia <ref>{{Cite pmid|29669943 }}</ref> Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis #MMPMID29669943 Sherrill JD ; Kc K ; Wang X ; Wen T ; Chamberlin A ; Stucke EM ; Collins MH ; Abonia JP ; Peng Y ; Wu Q ; Putnam PE ; Dexheimer PJ ; Aronow BJ ; Kottyan LC ; Kaufman KM ; Harley JB ; Huang T ; Rothenberg ME JCI Insight 2018[Apr]; 3 (8 ): ä PMID29669943 show ga Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and transketolase domain-containing 1 (DHTKD1). Rare variant burden analysis revealed an overabundance of putative, potentially damaging DHTKD1 mutations in EoE (P = 0.01). Interestingly, we also identified 7 variants in the DHTKD1 homolog oxoglutarate dehydrogenase-like (OGDHL). Using shRNA-transduced esophageal epithelial cells and/or patient fibroblasts, we further showed that disruption of normal DHTKD1 or OGDHL expression blunts mitochondrial function. Finally, we demonstrated that the loss of DHTKD1 expression increased ROS production and induced the expression of viperin, a gene previously shown to be involved in production of Th2 cytokines in T cells. Viperin had increased expression in esophageal biopsies of EoE patients compared with control individuals and was upregulated by IL-13 in esophageal epithelial cells. These data identify a series of rare genetic variants implicating DHTKD1 and OGDHL in the genetic etiology of EoE and underscore a potential pathogenic role for mitochondrial dysfunction in EoE. |Adult [MESH] |Child [MESH] |Cytokines/metabolism [MESH] |Eosinophilic Esophagitis/*congenital/etiology/*immunology/pathology [MESH] |Epithelial Cells/metabolism [MESH] |Exome Sequencing/methods [MESH] |Female [MESH] |Fibroblasts/metabolism [MESH] |Humans [MESH] |Interleukin-13/metabolism [MESH] |Ketoglutarate Dehydrogenase Complex/*metabolism [MESH] |Ketone Oxidoreductases [MESH] |Male [MESH] |Mitochondria/*metabolism/physiology [MESH] |Mutation [MESH] |Oxidoreductases Acting on CH-CH Group Donors [MESH] |Oxidoreductases/*genetics/metabolism [MESH] |Proteins [MESH] |RNA, Small Interfering/genetics [MESH] |T-Lymphocytes/metabolism [MESH]Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as li(epmc).pdf DeepDyve Pubget Overpricing