神经嵴细胞和神经嵴病及其致病机制的研究进展  

Research progress on neural crest cells and neurocristopathies and its pathogenesis

作　　者：蒋卓远 查艳 石小峰 张永彪 Zhuoyuan Jiang;Yan Zha;Xiaofeng Shi;Yongbiao Zhang(School of Biological Science and Medical Engineering,Beihang University,Beijing 100000,China;School of Medicine and Engineering,Beihang University,Beijing 100000,China;Beijing Advanced Innovation Center for Big Data-Based Precision Medicine,Beihang University,Beijing 100000,China;Key Laboratory of Big Data-Based Precision Medicine(Beihang University),Ministry of Industry and Information Technology,Beijing 100000,China)

机构地区：[1]北京航空航天大学生物与医学工程学院,北京100000 [2]北京航空航天大学医学科学与工程学院,北京100000 [3]北京航空航天大学大数据精准医疗高精尖创新中心,北京100000 [4]工信部大数据精准医疗重点实验室,北京100000

出　　处：《遗传》2022年第2期117-133,I0001,共18页Hereditas（Beijing)

基　　金：国家自然科学基金(编号:82171844,81970898);北京市自然科学基金(编号:7204273)资助。

摘　　要：神经嵴细胞(neural crest cells,NCCs)是一类脊椎动物特有的可迁移的多能干细胞,其可分化为软骨细胞、神经元和黑色素细胞等多种类型细胞。NCCs的形成、迁移和分化受到严格调控,任何扰乱NCCs发育的因素都可导致胚胎发育畸形。由神经嵴细胞发育异常所导致的一系列疾病统称为神经嵴病(neurocristopathies,NCPs)。NCPs种类繁多且表型复杂,可累及人体多个部位(颅面部、心脏、肠胃和皮肤等),严重危害患者的身体机能和心理健康。NCPs占所有出生缺陷患儿的1/3,遗传因素是导致NCPs的主要风险因素,但环境风险因子以及基因–环境交互作用异常也可导致NCPs。本文对神经嵴细胞和神经嵴病及其致病机制进行综述,为系统认知神经嵴细胞发育以及神经嵴病提供参考,为了解神经嵴病的病因以及开展有效防控提供科学支撑。Neural crest cells(NCCs)are multipotent progenitor cells unique to vertebrates,and they have the ability to differentiate into a variety of cells,such as chondrocytes,neurons,and melanocytes.The formation,migration,and differentiation of NCCs are tightly regulated,and the disruption of NCC development results in abnormal embryo development.Neurocristopathies(NCPs)refer to a group of diseases that develop in response to abnormal development of NCCs.NCPs are of various types and exhibit complex phenotypes,which can affect many parts of the human body,such as the craniofacial structure,heart,intestine,and skin.NCPs negatively impact the physical function and mental health of the affected patients.NCPs account for one third of the defects in children with birth defects.Genetic factors are the main risk factors for NCPs,but environmental factors and abnormal gene-environment interactions can also lead to the development of NCPs.In this review,we introduce NCCs,NCPs,and their pathogenesis,so as to provide a reference point for a systematic understanding of NCPs and NCC development,and to provide scientific support for understanding the etiology of NCPs and their effective prevention and control.

关 键 词：神经嵴细胞 神经嵴病 基因调控网络 风险因素 发病机制 

分 类 号：R741.02[医药卫生—神经病学与精神病学]