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Open Access Article

Advances in International Psychology. 2024; 6: (1) ; 28-32 ; DOI: 10.12208/j.aip.20240005.

Progress in the study of autism spectrum disorders caused by mutations in the CHD8 gene
CHD8基因突变导致孤独症谱系障碍的研究进展

作者: 刘佳慧, 熊博 *

华中科技大学同济医学院法医学系 湖北武汉

*通讯作者: 熊博,单位:华中科技大学同济医学院法医学系 湖北武汉;

发布时间: 2024-12-29 总浏览量: 65

摘要

孤独症谱系障碍(ASD)是一种常见的神经发育障碍,影响大约3%学龄儿童的神经发育。其核心症状是社会沟通障碍,重复刻板样行为。孤独症严重影响了儿童的心理健康,社交和学习能力,同时也带来了家庭以及社会的沉重负担。孤独症的病因主要与遗传因素有关,染色质结构域解旋酶 DNA 结合蛋白 8(Chromodomain-helicase-DNA-binding protein 8,CHD8)是 ASD 的高置信度风险基因之一,本文总结了CHD8结构与生物学功能,CHD8基因突变导致孤独症谱系障碍的机制研究进展以及孤独症的治疗手段进展, 指出进一步研究CHD8基因突变导致神经传递和E/I失衡问题的具体机制,以及需要联合不同新兴领域的力量和专业知识,将是推进CHD8在精神健康和疾病中的功能的关键。

关键词: CHD8,孤独症 ,E/I失衡,神经系统发育,神经传递,治疗

Abstract

Autism spectrum Disorder (ASD) is a common neurodevelopmental disorder that affects the neurodevelopment of approximately 3% of school-age children. Its core symptoms are social communication disorders and repetitive stereotypical behaviors. Autism seriously affects children's mental health, social and learning ability, but also brings a heavy burden on the family and society. The cause of autism is mainly related to genetic factors, Chromodomain-helicase-DNA-binding protein 8 (CHD8) is one of the high confidence risk genes for ASD. This paper summarizes the structure and biological function of CHD8, the mechanism of CHD8 gene mutation leading to autism spectrum disorder, and the progress of treatment of autism,indicating that further research on the specific mechanisms by which CHD8 gene mutations lead to problems in neurotransmission and E/I imbalances, as well as the need to combine forces and expertise from different emerging fields, will be key to the advancement of CHD8 function in mental health and disease.

Key words: CHD8,autism,E/I imbalance, nervous system development, neurotransmission, therapy

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引用本文

刘佳慧, 熊博, CHD8基因突变导致孤独症谱系障碍的研究进展[J]. 国际心理学进展, 2024; 6: (1) : 28-32.