脑性瘫痪致病机制中的遗传因素初探

doi:10.11852/zgetbjzz2022-0177

中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (3): 237-239.DOI: 10.11852/zgetbjzz2022-0177

脑性瘫痪致病机制中的遗传因素初探

胡昊, 亓毅飞

广州市妇女儿童医疗中心儿科研究所,广东广州 510623

收稿日期:2021-11-02 修回日期:2022-01-30 发布日期:2022-03-18 出版日期:2022-03-10
通讯作者: 亓毅飞,E-mail:huh@cougarlab.org
作者简介:胡昊(1975-),男,研究员/教授/博士生导师,博士学位,主要从事儿童神经发育性疾病的分子机制研究。
基金资助:
国家自然科学基金面上项目(81671067,81974163);广州市科创委重大项目(201510192218459)

Preliminary study on genetic factors in the pathogenesis of cerebral palsy

HU Hao, QI Yi-fei

Guangzhou Women and Children's Medical Center, Pediatric Research Institute, Guangzhou, Guangdong 510623, China

Received:2021-11-02 Revised:2022-01-30 Online:2022-03-10 Published:2022-03-18
Contact: QI Yi-fei, ,E-mail:huh@cougarlab.org

摘要/Abstract

摘要： 脑性瘫痪(简称脑瘫)是儿童最常见的先天性运动障碍,然而,其内在的分子机制尚不明确。越来越多的证据表明,遗传因素在脑瘫的发病机制中起着举足轻重的作用。本团队对120个特发性脑瘫家庭进行了深入的遗传学分析,并在45%的患者中发现了潜在的有害遗传变异。通过对114个已知的脑瘫相关基因的整理,从遗传和功能两个方面确定了这些基因的特征,并根据这些基因的表达模式和相关的智力障碍提出二元分类系统。根据这一系统,对其中两个有代表性的基因TYW1和GPAM的致病机理进行深入探讨。综上所述,我们的发现为脑瘫病因学提供了新颖而有趣的分子机制,并为未来的治疗策略提供了新的方向。

关键词: 脑瘫, 遗传因素, 致病突变, 二元分类系统

Abstract: Cerebral palsy is the most prevalent physical disability in children. However, its inherent molecular mechanisms remain unclear.More and more evidences have showed that genetic factors play a pivotal role in the pathogenesis of cerebral palsy.Our research team has performed in-depth clinical and molecular analysis on 120 idiopathic cerebral palsy families, and identified underlying detrimental genetic variants in 45% of these patients.By a compilation of 114 known cerebral-palsy-related genes, characteristic features has been identified in terms of inheritance and function, from which a dichotomous classification system are proposed according to the expression patterns of these genes and associated cognitive impairments.Using this algorithm, the pathogenic mechanisms of two representative gene mutations, TYW1 and GPAM, are explored in depth.Taken together, our findings provide a novel and interesting mechanism for the etiology of cerebral palsy and insights for future therapeutic strategies.

Key words: cerebral palsy, genetic factor, disease-causing mutation, dichotomous classification system

中图分类号:

R742.3

胡昊, 亓毅飞. 脑性瘫痪致病机制中的遗传因素初探[J]. 中国儿童保健杂志, 2022, 30(3): 237-239.

HU Hao, QI Yi-fei. Preliminary study on genetic factors in the pathogenesis of cerebral palsy[J]. Chinese Journal of Child Health Care, 2022, 30(3): 237-239.

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脑性瘫痪致病机制中的遗传因素初探

Preliminary study on genetic factors in the pathogenesis of cerebral palsy

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