GATA4 C-末端缺失增强心肌细胞凋亡的机制

Abstract

目的：GATA4在心肌细胞发育过程中起关键作用。本课题组在先天性室间 隔缺损患者中发现了GATA4突变p.S335X，该突变可导致GATA4C末端缺失， 但其对心肌细胞的作用尚未明确。因此，本研究通过构建p.S335X突变过表达载 体，研究其对离体心肌细胞凋亡的影响和相关的分子机制。 方法：以分子生物学手段构建GATA4野生型（WT）和p.S335X突变型（MU） 过表达载体，转染P19和H9C2细胞。以TUNEL、Westernblot、qPCR等手段 评价GATA4突变对心肌细胞凋亡的影响，并检测经典凋亡通路关键酶的磷酸化 水平和表达的变化。借助qPCRarray技术检测GA...

Aim: GATA4 plays a key role in the development of cardiomyocytes. In patients with congenital ventricular septal defect, our group found p.S335X mutation of GATA4 which leads to deletion of GATA4 C-terminal. However, its effects on cardiomyocytes are still unclear. Hence, by construction of vector over-expressing p.S335X mutation, the present study was to study the effects and molecular mecha...