TJP2 基因突变可导致进行性胆汁淤积性肝病。
Mutations in TJP2 cause progressive cholestatic liver disease.
机构信息
Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London School of Medicine, London, UK.
Institute of Liver Studies, King's College Hospital, London, UK.
出版信息
Nat Genet. 2014 Apr;46(4):326-8. doi: 10.1038/ng.2918. Epub 2014 Mar 9.
Abstract
Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. These findings contrast with those in the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species.
摘要
阐明胆病的遗传原因已被证明对理解肝脏的生理学和病理生理学非常重要。在这里，我们表明紧密连接蛋白 2 基因 (TJP2) 的蛋白截断突变导致蛋白定位失败和紧密连接结构破坏，导致严重的胆汁淤积性肝病。这些发现与胚胎致死性敲除小鼠的结果形成对比，突出了不同器官和物种之间连接复合体冗余的差异。
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