What is epigenetics, and what does it have to do with autism?

By Alycia Halladay, PhD, Autism Speaks former director of research for environmental sciences.

What is epigenetics, and what does it have to do with autism?

If you’ve been following autism research in recent years, you have probably read—many times—that genetic, or inherited, risk is seldom the whole picture.

A few inherited genes are sufficient by themselves to cause autism. But most so-called “autism genes” only increase the risk that an infant will go on to develop this developmental disorder.

It appears that autism often results from a combination of genetic susceptibility and environmental triggers. This is where epigenetics comes in.

What is Epigenetics?

Epigenetics is the study of the factors that control gene expression. This control involves chemicals that surround a gene’s DNA.

Environmental epigenetics looks at how outside influences modify these epigenetic chemicals, or “markers,” and so affect genetic activity.

Keep in mind that scientists use the term “environment” to refer to much more than pollutants and other chemical exposures. Researchers use this term to refer to pretty much any influence beyond genetic mutation.

Parental age at time of conception, for example, is an environmental influence associated with increased risk of autism. So are birth complications such as significant prematurity or oxygen deprivation.

Epigenetics gives us a way to look at the interaction between genes and environment. It may also help us develop medicines and other interventions that can target disabling symptoms.

Autism Speaks remains committed to supporting and guiding environmental epigenetics as a highly important area of research.  We look forward to reporting further results.