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Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

Epigenetic Regulation

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Epigenetic Regulation

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Related Experiment Video

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Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Common DNA methylation alterations in multiple brain regions in autism.

C Ladd-Acosta¹, K D Hansen², E Briem³

¹1] Department of Epidemiology, Johns Hopkins School of Public Health, Baltimore, MD, USA [2] Center for Epigenetics, Institute for Basic Biomedical Science, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Molecular Psychiatry

|September 4, 2013

Summary

Epigenetic factors, specifically DNA methylation (DNAm), may play a significant role in autism spectrum disorder (ASD) etiology. This study identified differentially methylated regions in brain tissue, suggesting new candidate genes for ASD.

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Last Updated: May 8, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

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Hypoxia Alters miRNAs Levels Involved in Non-Mendelian Inheritance of Autism Spectrum Disorder in Mice

Hypoxia Alters miRNAs Levels Involved in Non-Mendelian Inheritance of Autism Spectrum Disorder in Mice

Published on: July 11, 2025

Area of Science:

Neuroscience
Genetics
Epigenetics

Background:

Autism spectrum disorders (ASD) are complex neurodevelopmental conditions with high heritability, yet few genes have been reproducibly linked.
Environmental and epigenetic factors are increasingly recognized as crucial in ASD etiology.
Understanding epigenetic contributions, like DNA methylation, is vital for unraveling ASD's origins.

Purpose of the Study:

To investigate DNA methylation patterns in postmortem brain tissue from individuals with and without ASD.
To identify specific differentially methylated regions (DMRs) associated with ASD.
To explore potential epigenetic biomarkers and candidate genes for ASD.

Main Methods:

Pilot study using postmortem brain tissue from 19 ASD cases and 21 controls.
Analysis of DNA methylation across three brain regions (dorsolateral prefrontal cortex, temporal cortex, cerebellum).
Utilized the Infinium HumanMethylation450 BeadChip to assess over 485,000 CpG loci.
Employed a bump hunting approach and permutation-based multiple testing correction to identify DMRs.

Main Results:

Identified four genome-wide significant differentially methylated regions (DMRs).
Replicated 3 out of 4 identified DMRs in independent samples and brain regions.
These DMRs suggest commonly altered methylation sites in ASD.

Conclusions:

Provides suggestive evidence for epigenetic alterations, specifically DNA methylation, in ASD.
Identified several promising candidate genes for further investigation in ASD.
Highlights the potential role of epigenetics in the heterogeneous presentation of ASD.