遗传 ›› 2019, Vol. 41 ›› Issue (9): 801-815.doi: 10.16288/j.yczz.19-133

• 综述 • 上一篇    下一篇

脑发育疾病及发病机制

姜义圣,许执恒()   

  1. 中国科学院遗传与发育生物学研究所发育生物学研究中心,北京 100101
  • 收稿日期:2019-05-13 修回日期:2019-07-04 出版日期:2019-09-20 发布日期:2019-08-26
  • 通讯作者: 许执恒 E-mail:zhxu@genetics.ac.cn
  • 作者简介:姜义圣,博士研究生,专业方向:细胞生物学。E-mail: ysjiang@genetics.ac.cn
  • 基金资助:
    国家自然科学基金项目编号(31430037);国家自然科学基金项目编号(31730108);中国科学院战略性先导科技专项资助编号(XDB32020100);中国科学院战略性先导科技专项资助编号(QYZDJ-SSW-SMC007);中国科学院战略性先导科技专项资助编号(GJHZ1827)

Brain developmental diseases and pathogenic mechanisms

Jiang Yisheng,Xu Zhiheng()   

  1. Department of Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China
  • Received:2019-05-13 Revised:2019-07-04 Online:2019-09-20 Published:2019-08-26
  • Contact: Xu Zhiheng E-mail:zhxu@genetics.ac.cn
  • Supported by:
    Supported by the National Natural Science Foundation of China Nos(31430037);Supported by the National Natural Science Foundation of China Nos(31730108);Strategic Priority Research Program and Innovation Program of the Chinese Academy of Sciences Nos(XDB32020100);Strategic Priority Research Program and Innovation Program of the Chinese Academy of Sciences Nos(QYZDJ-SSW-SMC007);Strategic Priority Research Program and Innovation Program of the Chinese Academy of Sciences Nos(GJHZ1827)

摘要:

大脑发育是一个极其复杂又被精确调控的过程,主要包括神经前体细胞增殖和分化、神经元迁移和形态发生(包括轴、树突发育)、突触形成与修剪、轴突髓鞘化、神经网络的形成与重塑等过程,最终形成功能完善的神经系统。其中的任何过程出现问题都有可能导致大脑发育异常,造成大脑功能障碍,即脑发育疾病。儿童脑发育疾病在医疗总负担中占比最高,因此被广泛关注。脑发育疾病通常被划分为两类:一类以大脑形态结构异常为指标,即大脑皮层发育畸形(malformation of cortical development, MCD);另一类以大脑功能障碍为指标,即神经精神疾病(neuropsychopathy)。大脑皮层发育畸形中的小颅畸形(microcephaly)和神经精神疾病中的孤独症谱系障碍(autism spectrum disorder, ASD)这两种疾病具有许多共同之处,例如小颅畸形致病基因的突变高频地出现在ASD病人中。本文针对这两类具有代表性的脑发育疾病,从症状、病因、机制和相关基因等方面展开介绍,以期为疾病的基础研究和治疗提供理论指导。

关键词: 脑发育疾病, 小颅畸形, 孤独症, 致病基因

Abstract:

Development of the human brain is a strictly complex and precisely regulated process. Brain development includes the proliferation and differentiation of neural progenitor cells, migration and maturation of neurons, myelination of neuronal axons, synaptogenesis and organization of the neural circuits. Abnormalities of these developmental processes can lead to severe malformation and dysfunction of the brain, which may result in brain developmental diseases which have a high medical burden and have attracted global attention. Brain developmental diseases are typically divided into two categories according to abnormal brain morphology and dysfunction: malformation of cortical development (MCD) and neuropsychopathy. Microcephaly and autism spectrum disorder (ASD) are representative disorders of MCD and neuropsychopathy respectively. In this review, we summarize the progresses of these two typical and relevant brain developmental diseases including the mechanism and etiology of their development, gene expression, symptoms, and related to provide theoretical guidance for basic research and management and treatment.

Key words: brain developmental diseases, microcephaly, autism,