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|本期目录/Table of Contents|

LQT2相关hERG基因的功能和表达(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2012年第3期
页码:
402-406,410
栏目:
综述
出版日期:
2012-06-25

文章信息/Info

Title:
LQT2-related gene (hERG) K+ channels: function and expression
作者:
范丹丹 综述; 周 筠 审校
(西安交通大学医学院药理学系，陕西 西安 710061)
Author(s):
FAN Dan-dan;  ZHOU Jun
(Department of Pharmacology, College of Medicine, Xi’an Jiaotong University, Xi’an 710061, Shaanxi, China)
关键词:
长QT综合征Ⅱ型; hERG基因; 突变; miRNA
Keywords:
long-QT syndrome type II;  human ether-a-go-go-related gene;  mutation;  miRNA
分类号:
R54
DOI:
-
文献标识码:
A
摘要:
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。
Abstract:
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.

参考文献/References

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备注/Memo

备注/Memo:
收稿日期：2011-12-06.基金项目：国家自然科学基金项目资助（重点项目30930105，面上项目81170176）；西安交通大学自由探索自主创新项目资助（XJJ20100036）；陕西省科技计划项目资助(2001K12-01-01) 通讯作者：周筠，副教授，主要从事心血管药理学研究 Email：jzhou829@yahoo.com.cn 作者简介：范丹丹，硕士生 Email：fandandan1988@ stu.xjtu.edu.cn
更新日期/Last Update: 2012-05-02