Molecular pathogenetic mechanism of idiopathic cardiomyopathy

特发性心肌病(ICM)是一种伴有心肌细胞功能异常的异质性心肌病。本研究的目的是探讨由遗传异常引起的ICM新的分子发病机制。结果表明：(1)鲤鱼和Fukutin基因突变与扩张型心肌病(DCM)有关，(2)应激条件下ZASP/Cypher锚定PGM1至Z-Disk，PGM1与ZASP/Cypher结合障碍可能参与DCM的发病。

Idiopathic cardiomyopathy (ICM) is heterogeneous myocardial disease associated with functional abnormalities of cardiomyocytes. The aim of this study was to investigate the novel molecular pathogenesis of ICM caused by the genetic abnormalities. As the results, it was identified that (1) mutations in genes encoding CARP and Fukutin are associated with dilated cardiomyopathy (DCM), and (2)ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress and the impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of DCM.