| LQT2相关hERG基因的功能和表达 |
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| 引用本文： | 范丹丹,周筠. LQT2相关hERG基因的功能和表达[J]. 心脏杂志, 2012, 24(3): 402-406 |
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| 作者姓名： | 范丹丹 周筠 |
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| 作者单位： | (西安交通大学医学院药理学系，陕西 西安 710061) |
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| 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) |
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| 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。
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| 关 键 词： | 长QT综合征Ⅱ型 hERG基因 突变 miRNA |
| 收稿时间： | 2011-12-06 |
LQT2-related gene(hERG) K~+ channels:function and expression |
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| FAN Dan-dan,ZHOU Jun. LQT2-related gene(hERG) K~+ channels:function and expression[J]. Chinese Heart Journal, 2012, 24(3): 402-406 |
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| Authors: | FAN Dan-dan ZHOU Jun |
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| Affiliation: | (Department of Pharmacology,College of Medicine,Xi’ an Jiaotong University,Xi’ an 710061,Shaanxi,China) |
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| 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. |
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| Keywords: | long-QT syndrome type II human ether-a-go-go-related gene mutation miRNA |
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