LQT2相关hERG基因的功能和表达

LQT2-related gene(hERG) K^+ channels:function and expression

先天性长QT综合征(LQTS)是一类遗传性心律失常,现已发现12种不同基因的突变与LQTS相关。在中国长QT综合征Ⅱ型(LQT2)是一种最常见的LQTS,其发生率占LQTS的54.5%。先天性LQT2由hERG基因突变所致。hERG基因编码心脏快速激活延迟整流钾电流(IKr)通道的α亚基,hERG基因的突变可使IKr通道外向钾电流减少,QT间期延长。本文主要从hERG基因的突变机制,基因的检测和其与miRNA的关系等方面进行阐述。

Long QT syndrome （LQTS） is a familial abnormality of cardiac rhythm. To date, mutations in 12 different genes have been associated with LQTS. In China, LQT2 accounting for 54.5% of the LQTS is one of the most common forms of LQTS. Congenital LQTS type II （LQT2） is caused by mutations in the human ether-a-go-go-related gene （hERG）. hERG encodes the pore-forming α-subunits of channels that conduct the rapid delayed rectifier K^＋ current （IKr）. hERG mutations lead to a reduction in the rapid component of the delayed rectifier repolarizing current （ IKr ）, which contributes to QT interval lengthening. This paper mainly reviewed the mechanism, genetic testing and miRNA relationship of hERG mutations.