肥厚型心肌病的遗传学进展

Progress in Genetics of Hypertrophic Cardiomyopathy

肥厚型心肌病(HCM)是一种左心室或室间隔呈不对称性肥厚的心肌病,具有家族聚集性,呈常染色体显性遗传,常合并心律失常、心源性猝死、心绞痛等其他心血管疾病。目前认为,HCM发病机制主要是基因突变,已发现有14个以上基因,1 400多个突变位点与HCM有关,这些基因大多数是编码肌小节蛋白,如β肌球蛋白重链、肌球蛋白结合蛋白C、心肌肌钙蛋白T等基因。随着研究的深入,一些编码非肌小节蛋白的基因突变也逐渐被发现,如编码转甲状腺蛋白的基因,线粒体中的基因发生突变也会造成心肌肥厚。

Hypertrophic eardiomyopathy is a kind of myoeardiopathy to the left ventricle or ventrieular septal asymmetry thickening,which is eharaetered with familial aggregation and autosomal dominant, often with arrhythmia, sudden cardiac death,angina pectoris and other cardioascular disease. At present, the pathogenesis of the disease is mainly caused by found, most of which encode sarcomere proteins, such as 13-myosin heavy chain,myosin binding protein C, troponin T type 2 and so on. With the deepening of the research, some coding of sareomere protein gene mutations also gradually be found, such as coding thyroid protein gene, gene nmtations in the mitochondria can also cause myocardial hypertrophy.