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Genetic sequencing has identified chromatin remodelers and histone modifiers as the most prominent risk genes for autism spectrum disorders (ASD), such as ADNP, POGZ, CHD2, CHD8, ASH1L, KMT5B, and KDM6B. This book chapter highlights the mechanisms underlying the role of several chromatin regulators in ASD pathophysiology. Deficiency of ASH1L, a H3 histone methyltransferase, leads to synaptic gene dysregulation and excitation/inhibition (E/I) imbalance. Deficiency of KMT5B, a H4 histone methyltransferase, alters DNA repair pathway and activates genes involved in cellular stress. Deficiency of chromatin regulator ADNP or POGZ prompts immune gene expression, microglia activation, and synaptic defect. All these processes are essential for proper brain development, social and cognitive function. Overall, this book chapter underscores the importance of epigenetic dysregulation in ASD.

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Epigenetic Mechanisms of Autism Spectrum Disorders

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  • 发表日期：

    2025年

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  • Zhen Yan

摘要

Genetic sequencing has identified chromatin remodelers and histone modifiers as the most prominent risk genes for autism spectrum disorders (ASD), such as ADNP, POGZ, CHD2, CHD8, ASH1L, KMT5B, and KDM6B. This book chapter highlights the mechanisms underlying the role of several chromatin regulators in ASD pathophysiology. Deficiency of ASH1L, a H3 histone methyltransferase, leads to synaptic gene dysregulation and excitation/inhibition (E/I) imbalance. Deficiency of KMT5B, a H4 histone methyltransferase, alters DNA repair pathway and activates genes involved in cellular stress. Deficiency of chromatin regulator ADNP or POGZ prompts immune gene expression, microglia activation, and synaptic defect. All these processes are essential for proper brain development, social and cognitive function. Overall, this book chapter underscores the importance of epigenetic dysregulation in ASD.