Epigenetic Mechanisms of Autism Spectrum Disorders

Zhen Yan

doi:10.1007/978-3-031-73368-0_103

Epigenetic Mechanisms of Autism Spectrum Disorders

Zhen Yan

Physiology and Biophysics

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

3 Scopus citations

Abstract

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.

Original language	English
Title of host publication	Handbook of the Biology and Pathology of Mental Disorders
Publisher	Springer Science+Business Media
Pages	2095-2108
Number of pages	14
ISBN (Electronic)	9783031733680
ISBN (Print)	9783031733673
DOIs	https://doi.org/10.1007/978-3-031-73368-0_103
State	Published - Jan 1 2025

Keywords

Autism spectrum disorder
Chromatin remodeler
Epigenetics
Histone deacetylase
Histone demethylase
Histone methyltransferase
Histone modifier
NMDA receptors
Prefrontal cortex
Risk genes
Social deficits
Synaptic

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10.1007/978-3-031-73368-0_103

Cite this

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title = "Epigenetic Mechanisms of Autism Spectrum Disorders",

abstract = "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.",

keywords = "Autism spectrum disorder, Chromatin remodeler, Epigenetics, Histone deacetylase, Histone demethylase, Histone methyltransferase, Histone modifier, NMDA receptors, Prefrontal cortex, Risk genes, Social deficits, Synaptic",

author = "Zhen Yan",

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N2 - 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.

AB - 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.

KW - Autism spectrum disorder

KW - Chromatin remodeler

KW - Epigenetics

KW - Histone deacetylase

KW - Histone demethylase

KW - Histone methyltransferase

KW - Histone modifier

KW - NMDA receptors

KW - Prefrontal cortex

KW - Risk genes

KW - Social deficits

KW - Synaptic

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M3 - Chapter

AN - SCOPUS:105023346375

SN - 9783031733673

SP - 2095

EP - 2108

BT - Handbook of the Biology and Pathology of Mental Disorders

PB - Springer Science+Business Media

ER -

Epigenetic Mechanisms of Autism Spectrum Disorders

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Keywords

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