家族性肥厚型心肌病与肌钙蛋白T

家族性肥厚型心肌病(FHCM)是一种常染色体显性遗传病, 由于编码心肌蛋白的基因突变引起，目前已识别出至少13个不同致病基因的200余种突变。目前，阐明FHCM的分子遗传学机制已经成为当前研究的热点之一。肌钙蛋白T通过与原肌宁蛋白结合，在将肌钙蛋白复合体锚钉到细肌丝上起重要作用。肌钙蛋白T基因突变是导致家族性肥厚型心肌病的主要原因，至今已经发现了大约30个突变，约占所有突变的15~20%。肌钙蛋白T基因突变所致FHCM有两个主要特征：（1）心肌肥厚程度较轻, 疾病外显率差别较大，（2）猝死率高。目前所发现的致FHCM突变，主要集中在肌钙蛋白T的T1和T2结构域。对肌钙蛋白T突变致FHCM分子机制的研究将有助于肥厚型心肌病的基因诊断和临床治疗。

Familial Hypertrophic Cardiomyopathy and Troponin T

Familial hypertrophic cardiomyopathy (FHCM) is an autosomal dominant disorder.More than 200 mutations for thirteen genes are ilnvolved in FHCM,which result from all encoding components of the contractile apparatus of the cardiac myocyte.Troponin T (TnT) is one of the three subunits that form troponin complex which is responsible for the regulation of striated muscle contraction together with tropomyosin.In fact,the TNNT2 gene is the third most common gene responsible for familial hypertrophic cardiomyopathy,accounting for approximately 15%～20% of all cases.The mutations in cardiac tmponin T gene appear to be associated with incomplete penetrance and poor prognosis of the family hypertrophic cardiomyopathy.TNNT2 mutations are clustered in its two domains.The study on the molecular mechanism for hypertrophic cardiomyopathy caused by TnT can lead to improved genetic counseling and better clinical management in families with HCM.