NKX2.5和TBX5与先天性心脏病的研究进展  

Research Progress of NKX2.5,TBX5 and Congenital Heart Disease

作　　者：胡易池[1] 杨毅宁[1] 

机构地区：[1]新疆医科大学第一临床医学院,乌鲁木齐830054

出　　处：《医学综述》2012年第13期1986-1989,共4页Medical Recapitulate

基　　金：新疆维吾尔自治区自然科学基金面上项目(2010211A44)

摘　　要：心脏特异转录因子是指主要在心肌细胞中表达的关键的转录活化因子,调控编码心肌细胞结构蛋白或调节心脏基因蛋白的表达。目前研究较多的心脏特异转录因子有Nkx2.5、MEF2C、Irx4以及TBX5。心脏特异转录因子的突变是先天性心脏病遗传学方面的主要病因。研究显示其中Nkx2.5和TBX5为单纯性心脏病中2个主要的致病基因,它们协同作用,调控许多下游基因的正确表达。现对它们的结构、功能、相互关系及其变异引发先天性心脏病的可能机制进行综述。Heart specific transcription factors are the key activated transcription factors expressed mainly in myocardial cells,which regulate expression of coding myocardial cell structure protein or modulate cardiac gene protein.Heart specific transcription factors in more research currently include：Nkx2.5,MEF2C,Irx4 and TBX5.Mutations of heart specific transcription factors are the main cause of congenital heart disease in genetics.Studies show that Nkx2.5 and TBX5 are two major ones of all the virulence genes in the idiopathic heart disease,which act in synergy and regulate correct expression of many downstream genes.Here is to make a review on their structure,function,relationship and the possible mechanisms of congenital heart disease triggered by their variation.

关 键 词：先天性心脏病 易感基因 心脏发育 

分 类 号：R541.1[医药卫生—心血管疾病]