心肌病关联基因家族与心肌发育和心肌病

Cardiomyopathy Associated Genes in Cardiac Development and Cardiomyopathy

心肌发育是个复杂的过程,受许多发育相关因子组成的复杂分子网络调控。这些基因的突变和结构异常可导致心肌发育异常和原发性心肌病。心肌病关联基因家族对心肌的胚胎发育、出生后心肌结构重塑以及心肌损伤修复等过程有重要作用。本文结合临床基因突变报道,对心肌病关联基因家族的功能和模式动物中的分子机制研究进行综述,以期深入了解该家族蛋白质在心肌发育及原发性心肌病中的作用。

Cardiac development is achieved in tile way that many development-related factors make up a complex molecular network that regulates cardiac-specific gene expression. Mutations and structural abnormalities of these genes often cause heart dysplasia and primary cardiomyopathy. Cardiomyopathy- associated gene family （CMYA） plays an important role in embryonic cardiac development, the structure remodeling of cardiac after birth and the repair of myocardial injury. In this paper, combined with gene mutations from clinical reports, the function of CMYA and the study of molecular mechanism in the model animal were reviewed in order to gain insight into the role of the protein in cardiac development and primary cardiomyopathy.