《生命科学》 2014, 26(4): 329-339

原发性心肌病的分子遗传学特性

赵　跃^1，2，冯　悦¹，丁筱雪²，夏雪山¹，丁家桓^1*，张　宏^2*

(1 昆明理工大学生命科学与技术学院，昆明 650500；2 云南省第一人民医院，昆明 650032)

摘　要：：心肌病(cardiomyopathy) 是由心脏心室的结构改变和心肌壁功能受损导致的心脏病变，具体表现为心脏肌小节蛋白结构和功能的改变、离子通道结构和功能的改变、能量供给和调控受到影响、细胞膜成分的改变等。原发性心肌病是心肌病的主要种类，病变部位主要局限于心肌，包括肥厚型心肌病、扩张型心肌病、限制型心肌病、致心律失常型右心室心肌病和无类别心肌病5 大类。心肌病的发生主要与多种基因的变异有关，这些基因主要编码肌节蛋白、桥粒蛋白、膜蛋白、钙结合蛋白和与线粒体氧化磷酸化有关的蛋白等。对原发性心肌病的分子遗传学特性的研究进行概述，为该病的诊断、筛查、预防和治疗提供参考。

The molecular genetic characteristics of human primary myocardial disease

ZHAO Yue^1，2 ， FENG Yue¹， DING Xiao-Xue²， XIA Xue-Shan¹， DING Jia-Huan^1*， ZHANG Hong^2*

(1 Faculty of Life Science and Technology， Kunming University of Science and Technology， Kunming 650500， China; 2 First People’s Hospital of Yunnan Province， Kunming 650032， China)

Abstract: Abstract: Cardiomyopathy refers to the lesion of heart muscle， which is caused by the structural change of ventricle and the dysfunction of myocardial wall. It is characterized by the changes of the structure and function of sarcomere proteins and ion channels， the influence on the supply and regulation of energy， as well as the alteration of cell membrane component. Primary myocardial disease is a main type of cardiomyopathy， with the lesion confined to the myocardium. There are five subtypes of primary myocardial disease， including hypertrophic cardiomyopathy， dilated cardiomyopathy， restrictive cardiomyopathy， arrhythmogenic right ventricular cardiomyopathy and classless cardiomyopathy. It has been proved that the cardiomyopathy is mainly associated with the variations of multiple genes that encode sarcomere proteins， desmosomes protein， membrane proteins， calcium binding proteins and mitochondrial oxidative phosphorylated protein. This review summarizes the progress of the molecular genetics of primary myocardial disease to provide a useful reference for its screening， diagnosis， prevention and treatment.