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Purpose of Review <p>To summarize recent advances in our conceptual understanding of the epigenetic mechanisms of DNA repair contributing to autism spectrum disorder (ASD).</p> Recent Findings <p>Large-scale genetic studies indicate that genes involved in DNA repair contribute to some cases of ASD, and smaller scale studies have reported increased DNA damage in peripheral tissues of both individuals with ASD and their parents. ASD-associated chromatin remodelers, thought to contribute to ASD by regulating gene expression, also facilitate DNA repair. Recent evidence has provided some mechanistic insight into the function of ASD-associated genes in the epigenetic regulation of DNA repair. Importantly, the disruption of DNA repair is a leading candidate to explain the emerging connection between ASD and neurodegenerative disease and may also provide insight into sex differences in ASD.</p> Summary <p>Here, we highlight recent evidence that dysfunction of the DNA repair machinery is an overlooked mechanism underlying ASD, one which requires further systematic study for the benefit of individuals with ASD and their support systems. </p>

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Disruption of DNA Repair as an Emerging Epigenetic Mechanism Underlying Autism Spectrum Disorder

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月30日

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  • Benjamin Kelvington,
  • Jaekyoon Kim,
  • Sourav Banerjee,
  • Hanna E. Stevens,
  • Kim Hei-Man Chow,
  • Ted Abel

摘要

Purpose of Review

To summarize recent advances in our conceptual understanding of the epigenetic mechanisms of DNA repair contributing to autism spectrum disorder (ASD).

Recent Findings

Large-scale genetic studies indicate that genes involved in DNA repair contribute to some cases of ASD, and smaller scale studies have reported increased DNA damage in peripheral tissues of both individuals with ASD and their parents. ASD-associated chromatin remodelers, thought to contribute to ASD by regulating gene expression, also facilitate DNA repair. Recent evidence has provided some mechanistic insight into the function of ASD-associated genes in the epigenetic regulation of DNA repair. Importantly, the disruption of DNA repair is a leading candidate to explain the emerging connection between ASD and neurodegenerative disease and may also provide insight into sex differences in ASD.

Summary

Here, we highlight recent evidence that dysfunction of the DNA repair machinery is an overlooked mechanism underlying ASD, one which requires further systematic study for the benefit of individuals with ASD and their support systems.