Identification of genes associated with eosinophilic esophagitis скачать в хорошем качестве

Identification of genes associated with eosinophilic esophagitis

Eosinophilic esophagitis (EoE) is a chronic allergic disorder that presents with difficulty swallowing, vomiting, failure to thrive, and food impaction in adulthood. Several EoE-associated pathways have been identified; however, the underlying genetic causes of this disorder are poorly understood. In this publication, Marc Rothenberg and colleagues used whole-exome sequencing and identified EoE-associated variants in the mitochondrial oxioreductases DHTKD1 and OGDHL. In T cells, loss of DHTKD1 function increased ROS and viperin, which promotes Th2 cytokine production. Moreover, viperin was increased in esophageal biopsies from EoE patients. Together, these results implicate mitochondrial dysfunction in EoE pathogenesis. This article is published in the JCI Insight (2018): Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis Joseph D. Sherrill, Kiran KC, Xinjian Wang, Ting Wen, Adam Chamberlin, Emily M. Stucke, Margaret H. Collins, J. Pablo Abonia, Yanyan Peng, Qiang Wu, Philip E. Putnam, Phillip J. Dexheimer, Bruce J. Aronow, Leah C. Kottyan, Kenneth M. Kaufman, John B. Harley, Taosheng Huang, Marc E. Rothenberg Published April 19, 2018 Citation Information: JCI Insight. 2018;3(8):e99922. https://doi.org/10.1172/jci.insight.9.... Journal Article https://insight.jci.org/articles/view... Author’s Take - Published April 19, 2018, by Corinne Williams https://insight.jci.org/posts/67    • Identification of eosinophilic esophagitis...