转录因子HAND1基因多态性在心血管疾病中的研究进展

Research progress of transcription factor HAND1 gene polymorphism in cardiovascular disease

碱性螺旋-环-螺旋(bHLH)转录因子家族是指含有碱性螺旋-环-螺旋结构的一个转录因子大家族,其家族成员在生物的生长发育过程中起着重要的作用。转录因子心脏和神经嵴衍生物表达1(HAND1)是bHLH家族中的一员,在心脏的发育过程中具有关键性作用。HAND1基因突变与先天性心脏病、心肌病、心脏传导系统等心血管疾病的发生密切相关。HAND1基因表达缺失导致室间隔缺损、房室瓣畸形和右心室双出口等,过度表达引起左室发育障碍和心律失常易感性增加等。笔者主要介绍了转录因子HAND1在先天性心脏病、心肌病、心脏传导系统及其他心血管疾病等的研究进展,以期对心血管疾病的早期预防和精准治疗提供帮助。

The basic helix-loop-helix(bHLH)transcription factor family is a large family of transcription factors with a basic helix-loop-helix structure.Members of the bHLH family play an important role in the growth and development of organisms.Transcription factor heart and neural crest derivatives expressed 1(HAND1)is a member of the bHLH family and is essential for heart development.HAND1 gene mutations are linked to the occurrence of congenital heart disease,cardiomyopathy,cardiac conduction system,and other cardiovascular diseases.Loss of HAND1 gene expression results in ventricular septal defect,atrioventricular valve malformation,double outlet right ventricular and so on.Overexpression of the HAND1 gene causes a defect in left ventricular development and an increased susceptibility to arrhythmia.The author primarily summarizes the progress of transcription factor HAND1 research in congenital heart disease,cardiomyopathy,cardiac conduction system,and other cardiovascular diseases,in order to aid in the early detection and treatment of cardiovascular disease.