转录因子TBX5及其与先天性心脏病致病性关系的研究进展  

Transcription Factor TBX5 and Its Relationship with Congenital Heart Disease

作　　者：成蕊 支继新[1] CHENG Rui;ZHI Jixin(Department Six of Cardiology,the Fourth Affiliated Hospital of Harbin Medical University,Harbin 150001,China)

机构地区：[1]哈尔滨医科大学附属第四医院心血管内科六病房,哈尔滨150001

出　　处：《医学综述》2018年第16期3142-3146,共5页Medical Recapitulate

摘　　要：先天性心脏病是一类在胎儿时期心脏血管发育异常所致的心血管畸形。先天性心脏病的致病性与转录因子TBX5的关系非常密切。TBX5作为T-box转录因子家族成员之一,以其在心脏和前肢发育中的作用而得到广泛关注。TBX5突变可以引起先天性房间隔缺损、室间隔缺损和其他心脏传导系统异常,还可以引起以上肢和心脏畸形为特征的心手综合征。心脏基因的正常表达主要通过TBX5的网络调节,其中TBX5激活和抑制作用任一过程失调都将会导致先天性心脏病的发生。Congenital heart disease is a type of cardiovascular deformity caused by cardiovascular dysplasia during the fetal period. The pathogenicity of congenital heart disease is closely related to the transcription factor TBX5. TBX5 is a member of the T-box family of transcription factors and it is well known for its role in the cardiac and limb development. TBX5 mutations can cause a series of disorders,including congenital atrial septum defect,ventricular septum defect and other cardiac conduction system abnormalities,and can also cause Holt-Oram syndrome that is characterized by upper extremities and cardiac malformations. The normal expression of the cardiac gene is regulated mainly through the network of TBX5,in which any process of maladjustment of TBX5 activation and inhibition will lead to congenital heart disease.

关 键 词：先天性心脏病 TBX5 心手综合征 网络调节 

分 类 号：R541.1[医药卫生—心血管疾病]