心脏转录因子NKX2.5与先天性心脏病的关系.pdfVIP

Asian Case Reports in Vascular Medicine 亚洲心脑血管病例研究, 2016, 4(4), 21-26 Published Online November 2016 in Hans. /journal/acrvm /10.12677/acrvm.2016.44004 The Relationship between Cardiac Transcriptional Factor NKX2.5 and Congenital Heart Disease 1 2 1 1 1 Ping Ouyang , Sen Wang , Hao Liu , Mengfei Lin , Tao Li 1 Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, Dongguan Research Center, Guangdong Medical University, Dongguan Guangdong 2 Histology and Embryology Department of Basic Medical College, Guangdong Medical University, Dongguan Guangdong th th th Received: Oct. 13 , 2016; accepted: Nov. 12 , 2016; published: Nov. 15 , 2016 Copyright © 2016 by authors and Hans Publishers Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). /licenses/by/4.0/ Open Access Abstract Congenital heart defects (CHDs) are cardiovascular malformations formed during fetal period. It’s the commonest malformation for the newborns. The morbidity is about 1% in all the live birth in- fants. CHD is also a common disease that leads to children death. Previous studies have confirmed that genetics play an important role in the development of CHD. NKX2.5 is a cardiac transcription- al factor and plays a pivotal role in heart early development and maintenance of adult hearts. Plenty of studies have reported that NKX2.5 mutations lead to atrial septal defect, ventricular sep- tal defect and atrioventricular block. Functional analysis identified that the transcriptional activity, DNA-binding activity and nuc