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Epigenetic Regulation

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

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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Related Experiment Video

Updated: Mar 6, 2026

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

Exaggerated CpH methylation in the autism-affected brain.

Shannon E Ellis¹, Simone Gupta¹, Anna Moes¹

¹McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205 USA.

Molecular Autism

|March 21, 2017

Summary

Epigenetic alterations, specifically methylated CpH dinucleotides, are enriched in the brains of individuals with autism spectrum disorder. This finding highlights the role of epigenetics in autism

Keywords:

Autism Bisulfite sequencing Brains Methylation RRBS

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Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain

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Related Experiment Videos

Last Updated: Mar 6, 2026

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

Targeted DNA Methylation Analysis by Next-generation Sequencing

Targeted DNA Methylation Analysis by Next-generation Sequencing

Published on: February 24, 2015

Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain

Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain

Published on: July 12, 2012

Area of Science:

Neuroscience
Genetics
Epigenetics

Background:

Autism is a complex, heritable neurodevelopmental disorder with largely unexplained etiology.
Evidence suggests epigenetic mechanisms play a role in autism development.
This study investigates DNA methylation in autism-affected brain tissue.

Purpose of the Study:

To explore the role of CpG and CpH methylation in the cortical brain tissue of individuals with autism.
To identify specific methylation alterations associated with autism.

Main Methods:

Reduced representation bisulfite sequencing (RRBS) was performed on 63 post-mortem cortical brain samples (Brodmann area 19).
Samples were from 29 individuals with autism and 34 control individuals.
Analyses identified single differentially methylated sites and global methylation alterations at CpG and CpH sites.

Main Results:

No individual methylation site or region was significantly associated with autism after multi-test correction.
Methylated CpH dinucleotides showed a significant enrichment (approximately 2-fold) in autism-affected brains (p=0.002).

Conclusions:

Epigenetic alterations are implicated in the pathobiology of autism.
CpH methylation patterns may represent a novel biomarker or therapeutic target for autism.