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神经管畸形(neural tube defect,NTD)是指在胚胎发育过程中,神经管不闭合或闭合不全引起的一种出生缺陷,包括无脑儿、脊柱裂、脑膨出等,给家庭和社会带来很大的精神压力和经济负担。NTD是多因素疾病,一般认为是由遗传和环境因素共同作用的结果。之前研究主要集中于叶酸和叶酸代谢通路,近年来,模式动物研究表明平面细胞极化(planar cell polarity,PCP)信号通路对介导神经管闭合期间的汇聚延伸(convergent extension,CE)过程起着重要作用。本文将对PCP信号通路核心基因Vangl2及其相关基因对在NTD发生中所起的作用进行综述,揭示Vangl2在NTD研究中的重要意义。
Neural tube defect (NTD) is a kind of birth defects caused by the non-closure or incomplete closure of the neural tube in embryonic development, including brainless, spina bifida, encephalocele, etc. To a lot of mental stress and financial burden. NTD is a multifactorial disease that is generally thought to result from a combination of genetic and environmental factors. Previous studies have focused on the folate and folate metabolic pathways. In recent years, studies on model animals have demonstrated that the planar cell polarity (PCP) signaling pathway plays a central role in mediating the process of convergent extension (CE) during neural tube closure Important role. This article reviews the role of Vangl2, a core gene of PCP signaling pathway, and its related genes in the pathogenesis of NTD, revealing the significance of Vangl2 in NTD research.