肥厚型心肌病的致病分子机制研究进展

doi:10.3724/SP.J.1005.2011.00549

遗传 ›› 2011, Vol. 33 ›› Issue (6): 549-557.doi: 10.3724/SP.J.1005.2011.00549

肥厚型心肌病的致病分子机制研究进展

宋艳瑞¹, 刘忠², 顾淑莲², 钱丽娟³, 严庆丰¹

1. 浙江大学生命科学学院, 杭州310058 2. 浙江大学医学院附属第一医院, 杭州 310003 3. 浙江省肿瘤医院, 杭州310022

收稿日期:2010-10-04 修回日期:2010-11-29 出版日期:2011-06-20 发布日期:2011-06-25
通讯作者: 严庆丰 E-mail:qfyan@zju.edu.cn
基金资助:
国家自然科学基金项目(编号：30971599/C060503), 教育部新世纪优秀人才支持计划项目(编号：NCET-06-0526), 浙江省科技计划项目(编号：2008C23028)和浙江省新世纪151人才工程项目(编号：06-2-008)资助

Advances in the molecular pathogenesis of hypertrophic cardiomyopathy

SONG Yan-Rui¹, LIU Zhong², GU Shu-Lian², QIAN Li-Juan³, YAN Qing-Feng¹

1. College of Life Sciences, Zhejiang University, Hangzhou 310058, China 2. The First Affiliated Hospital of Zhejiang University, Hangzhou 310003, China 3. The Cancer Research Centre of Zhejiang Cancer Hospital, Hangzhou 310022, China

Received:2010-10-04 Revised:2010-11-29 Online:2011-06-20 Published:2011-06-25
Contact: YAN Qing-Feng E-mail:qfyan@zju.edu.cn

摘要/Abstract

摘要： 肥厚型心肌病(Hypertrophic cardiomyopathy, HCM)是以左心室及室间隔不对称肥厚为基本特征的原发性心肌病, 其发病率约为0.2%, 是青少年和运动员心源性猝死的最常见原因。HCM的发病年龄、发病程度和猝死风险等临床表型具有多样性, 通常呈常染色体显性遗传。目前已报道的HCM相关突变超过900种, 主要定位在β肌球蛋白重链基因、肌球蛋白结合蛋白C基因、心脏肌钙蛋白T基因等13个心脏肌节蛋白基因; 另一方面, 越来越多的研究显示线粒体基因突变与HCM发生相关。文章在简单介绍HCM形态学特征及临床表型的基础上, 着重综述了HCM的致病分子机制及其最新研究进展。

关键词: 肥厚型心肌病, 遗传, 突变, 核基因, 线粒体基因

Abstract: Hypertrophic Cardiomyopathy (HCM) is a primary cardiac disorder characterized by asymmetric thickening of the septum and left ventricular wall. HCM affects 1 in 500 individuals in the general population, and it is the most common cause of sudden death in the young and athletes. The clinic phenotype of HCM is highly variable with respect to age at onset, degree of symptoms, and risk of sudden death. HCM is usually inherited as a Mendelian autosomal dominant trait. To date, over 900 mutations have been reported in HCM, which were mainly located in 13 genes encoding cardiac sarcomere protein, e.g., MYH7, MYBPC3, and TnT. In addition, more and more mitochondrial DNA mutations were reported to be associated with the pathogenesis of HCM. Based on the description of the clinical phenotype and morphological characteristics, this review focuses on the research in the molecular pathogenic mechanism of HCM and its recent advances.

Key words: hypertrophic cardiomyopathy, genetics, mutations, nuclear genes, mitochondrial DNA

宋艳瑞，刘忠，顾淑莲，钱丽娟，严庆丰. 肥厚型心肌病的致病分子机制研究进展[J]. 遗传, 2011, 33(6): 549-557.

SONG Yan-Rui, LIU Zhong, GU Chu-Lian, JIAN Li-Juan, YAN Qiang-Feng. Advances in the molecular pathogenesis of hypertrophic cardiomyopathy[J]. HEREDITAS, 2011, 33(6): 549-557.

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肥厚型心肌病的致病分子机制研究进展

Advances in the molecular pathogenesis of hypertrophic cardiomyopathy

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