圆锥动脉干畸形与视黄酸信号传导通路关系的研究进展

摘要

Congenital conotruncal heart defects (CHD),including tetralogy of Fallot (TOF),double outlet of right ventricle(DORV),transposition of the great arteries(TGA),persistent truncus arteriosus (PTA),is a variety of common and serious congenital cardiovascular diseases which are threatenting to the health of neonates and infants.Previous studies have demostrated that TBX1 contricuted to some of the CHD.Recent studies have also confirmed that retinoic acid signaling pathway plays a curcial role of development of CHD.Further studies have also found that TGF-β2 differential expression is closely related with phenotypic polymorphism of conotruncal heart defects in retinoic acid receptor mutant mice,of which the mechanism is not yet clear.This paper provides an overview of the relationship between TBX1-RA signaling pathway and congenital conotruncal heart defects and TGF-β2-RA and CHD during the development of CHD.%心脏圆锥动脉干畸形是一类常见的、严重威胁新生儿和婴幼儿生命健康的先天性心血管疾病.研究证实TBX1基因参与了部分圆锥动脉干畸形的形成.近年研究发现,视黄酸(retinoic acid,RA)信号通路在圆锥动脉干畸形发生过程中起重要作用.进一步研究发现,在RA受体基因突变小鼠模型中,转化生长因子β2的差异性表达与圆锥动脉干畸形临床表型的多态性密切相关,但其具体机制尚不清楚.该文主要探讨TBX1-RA信号通路及转化生长因子β2-RA信号通路与圆锥动脉干畸形之间的关系研究进展.