Wdpcp基因调控心脏冠状动脉发育的机制

Mechanism of Wdpcp in regulating coronary artery development

Wdpcp作为平面细胞极性的效应基因,在胚胎时期主要通过影响细胞运动和初级纤毛生长参与多种器官和组织的发生和发育过程。WDPCP突变与临床上Bardet-Biedl综合征和Meckel-Gruber综合征相关。该文主要揭示了Wdpcp基因调节小鼠冠状动脉发育的新功能和机制,丰富了该基因的致病类型,为临床上诊断冠状动脉疾病的发病原因提供了重要的遗传学依据。

Wdpcp, a planar cell polarity（PCP） effector gene, plays essential roles in organogenesis during embryonic development through regulating collective cell movement and ciliogenesis. WDPCP mutations are associated with Bardet–Biedl syndrome and Meckel–Gruber syndrome in human. This study revealed a novel role of Wdpcp in regulating coronary artery development in mouse, demonstrating a new pathogenic phenotype associated with mutations of this gene in human. Results of this study may help us to understand the etiology of coronary artery disease.