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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.
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.
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