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Research Pinpoints Gene Linked to ADHD and Autism

March 28, 2016 In a continuing effort to map genetic markers for ADHD and related conditions, researchers at MIT and NYU have pinpointed a gene with direct connections to both attention deficit and autism. The gene, known as “Ptchd1,” has long been linked to ADHD. In this new study, published March 23 in the journal […]

March 28, 2016

In a continuing effort to map genetic markers for ADHD and related conditions, researchers at MIT and NYU have pinpointed a gene with direct connections to both attention deficit and autism.

The gene, known as “Ptchd1,” has long been linked to ADHD. In this new study, published March 23 in the journal Nature, researchers isolated this gene in mice — genetically modifying some mice to not have it, and comparing those subjects to mice with Ptchd1. The researchers trained all of the mice to point their noses toward a light whenever it flashed. Once additional lights and sounds were added, the mice lacking Ptchd1 became unable to complete the task without getting distracted — suggesting that the gene’s absence contributes to attention deficits.

Researchers hope to replicate the experiment with human subjects in order to solidify the link. If the results hold up, they could be used to develop gene therapy specifically designed to treat ADHD. Gene therapy is an experimental procedure mostly used to treat Alzheimer’s and certain types of cancer.

“One of the long-term goals is gene therapy where we can actually introduce genetic material that might be missing from the human,” said Michael F. Wells, a post-doctoral associate at MIT who worked on the study. “What’s exciting is that this is now a possibility, when it was pretty much science fiction 10 or 15 years ago.”

The research also showed a connection between the Ptchd1 gene and a part of the brain known as the thalamic reticular nucleus (TRN), which is responsible for filtering new information as it enters the brain. Mice without Ptchd1 showed less TRN activity as their reaction times slowed and their distractions increased.

This finding suggests that TRN-boosting treatments could improve ADHD symptoms and possibly help treat other disorders that affect attention, including autism.

For patients with ADHD and autism, this genetic link could be particularly beneficial. More work is needed, but the genetic link “could be related to a subtype of autism and ADHD that coexist together and may have a particular kind of treatment,” Dr. Gagan Joshi, a psychiatrist at Massachusetts General Hospital who was not involved in the study. “I see a great future there.

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