肥厚型心肌病的致病分子机制研究进展.pdfVIP

HEREDITAS (Beijing) 2011 6 , 33(6): 549―557 ISSN 0253-9772 综述 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 1 2 2 3 1 宋艳瑞 , 刘忠 , 顾淑莲 , 钱丽娟 , 严庆丰 1. , 310058; 2. , 310003; 3. , 310022 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。 肥厚型心肌病; 遗传; 突变; 核基因; 线粒体基因 Advances in the molecular pathogenesis of hypertrophic cardiomyopathy 1 2 2 3 1 SONG Yan-Rui , LIU Zhong , GU Shu-Lian , QIAN Li-Juan , YAN Qing-Feng 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 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 on- set, 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., MY