从表观遗传学角度探讨孤独症谱系障碍的发病机制

邬雨欣; 季由由; 李雨桐; 吴奕楠; 许榕霖; 钟艺; 肖彬

doi:10.11852/zgetbjzz2025-0118

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中国儿童保健杂志 ›› 2026, Vol. 34 ›› Issue (2) : 222-226. DOI: 10.11852/zgetbjzz2025-0118

综述

从表观遗传学角度探讨孤独症谱系障碍的发病机制

邬雨欣¹, 季由由¹, 李雨桐¹, 吴奕楠¹, 许榕霖², 钟艺¹, 肖彬³

作者信息 +

Pathogenesis of autism spectrum disorder from an epigenetic perspective

WU Yuxin¹, JI Youyou¹, LI Yutong¹, WU Yinan¹, XU Ronglin², ZHONG Yi¹, XIAO Bin³

Author information +

文章历史 +

摘要

孤独症谱系障碍(ASD)作为一种复杂的神经发育疾病,其病因涉及遗传与环境交互作用下的表观遗传调控失衡。本文系统探讨了自然环境、化学环境与生物环境对ASD风险的影响,同时分析了父母职业、年龄及代谢性疾病史等父母亲因素的潜在作用。研究聚焦DNA甲基化、组蛋白修饰及非编码RNA等表观遗传机制,揭示其在神经发育中的调控异常与ASD社交障碍、重复行为等核心症状的关联,为深入解析ASD发病机制及开发靶向干预策略提供了理论依据。

Abstract

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex etiology involving dysregulated epigenetic mechanisms arising from gene-environment interactions.This review systematically examines the contributions of natural, chemical, and biological environmental exposures to ASD risk.It further analyzes the potential role of parental factors such as parental occupation, age, and history of metabolic diseases.The review focuses on three major epigenetic mechanisms: DNA methylation, histone modifications, and non-coding RNA dysregulation, elucidating their aberrant regulation during critical neurodevelopmental windows and their associations with core ASD symptoms, including social communication deficits and restricted repetitive behaviors, which provides a theoretical basis for the in-depth analysis of the pathogenesis of ASD and the development of targeted intervention strategies.

导出引用

邬雨欣, 季由由, 李雨桐, 吴奕楠, 许榕霖, 钟艺, 肖彬. 从表观遗传学角度探讨孤独症谱系障碍的发病机制[J]. 中国儿童保健杂志. 2026, 34(2): 222-226 https://doi.org/10.11852/zgetbjzz2025-0118

WU Yuxin, JI Youyou, LI Yutong, WU Yinan, XU Ronglin, ZHONG Yi, XIAO Bin. Pathogenesis of autism spectrum disorder from an epigenetic perspective[J]. Chinese Journal of Child Health Care. 2026, 34(2): 222-226 https://doi.org/10.11852/zgetbjzz2025-0118

中图分类号： R179

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