CACNA1C基因突变致心脏疾病表型及机制的研究进展

Research progress on phenotype and mechanism of cardiac disease caused by CACNA1C gene mutations

编码电压依赖性L型Ca^2+通道α1C亚基基因CACNA1C突变可引起精神系统和心血管系统疾病,是罕见的Timothy综合征致病基因,其心血管系统表型主要包括长QT综合征、Brugada综合征、短QT综合征等。近年来,研究发现CACNA1C基因突变也可导致非综合征表型,包括先天性心脏病、心肌病等,进一步丰富了CACNA1C基因突变的临床表型。现对近年来CACNA1C基因突变相关的心脏疾病表型及其机制研究进展进行综述。

Mutations in the CACNA1C gene which encodes theα1C subunit of voltage dependent l-type Ca2+channel can cause mental and cardiovascular diseases.It is the pathogenic gene of Timothy syndrome.Its cardiovascular-system phenotype mainly includes long QT syndrome,Brugada syndrome,short QT syndrome,etc.In recent years,it has been found that CACNA1C gene mutations can also lead to non-syndromic phenotypes,including congenital heart disease,cardiomyopathy,etc,further enriching the clinical phenotype of CACNA1C gene mutation.Now,the recent advances in heart disease phenotypes and mechanisms involved in CACNA1C gene mutations are reviewed.