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Some cases of autism may have epigenetic origins

| | January 23, 2018

Scientists have discovered a swathe of biochemical regions that look to be deeply involved with the risk factors behind autism spectrum disorder (ASD).

Researchers have identified more than 2,000 of these regulatory regions – markers on top of our DNA that affect how our genetic machinery operates on a functional level – which are involved in learning and strongly associated with ASD.

While we know many cases of ASD are tied to differences in our genetic coding, the findings suggest epigenetic factors affecting non-genetic sequences of DNA could account for the development of the condition in many individuals.

[Researcher Lucia] Peixoto and her team experimented with mice that were placed in a box and given a small shock, which conditioned them to associate the box with an unpleasant experience.

With a new bioinformatics tool they developed called DEScan (Differential Enrichment Scan), the team identified 2,365 regions which were epigenetically regulated following the mouse’s conditioning. Interestingly, genes near many of these regions are known risk genes for ASD.

In the present research, the team analysed a clinical study involving more than 700 children (some 550 of which had autism), and found that one of the regulatory regions they identified in mice – called rs6010065 – is indeed associated with ASD in humans.

Read full, original post: Over 2,000 Newly Discovered Biological Markers Could Help Explain How Autism Develops

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