家族性心肌肥大症的分子遗传基础

Molecular Genetic Base of Familial Hyportrophic Cardiomyopathy

家族性心肌肥大症是发生频率很高的遗传病,其发生率在0 2 %～0 5 %之间,中国有多达6 0 0万的突变基因携带者。家族性心肌肥大症与两类基因的突变有关,一是心肌蛋白相关基因,目前已发现10种,其中主要是β肌球蛋白基因、肌球蛋白结合蛋白 C基因和肌钙蛋白结合基因,占患者总数的75 %以上。二是非心肌蛋白基因,包括线粒体基因组DNA、线粒体蛋白基因。

Familial hyportrophic cardiomyopathy (FHCM) is a compensatory response to defects in sarcomeric structural protein and mitochondrial related proteins. The frequency of this genetic disease is about 0.2%-0.5% and there are up to 6 millions potential patients in China. So far, 10 sarcomeric structural protein genes of β-myosin heavy chain, myosin binding cardiac troponin T protein-C etc and 3 mitochondrial related proteins genes of mitochondrial DNA, AMP-activated protein kinease, γ2, frataxin were found to be involved in FHCM. We summarized the molecular genetic mechanism in the review paper.