Another leap in UNC autism research

A UNC-based research team confirmed a genetic cause for autism: too much of a particular enzyme in the brain.

Postdoctoral fellow Jason Yi researched the genetic cause for the enzyme with a team led by Mark Zylka, an associate professor of cell biology and physiology.

The enzyme, called UBE3A, showed up after researchers analyzed DNA from a child with autism and compared it with DNA from the child’s parents, who don’t have autism.

“It’s a housekeeping enzyme,” Yi said.

“So what it does is it goes around and tags proteins that your cells no longer need in order to get them out of the system.”

A switch in the brain regulates the release of UBE3A, Yi said.

When it is too active, UBE3A floods the brain and causes more proteins to be deleted.

“We really found the switch that your brain uses to make sure UBE3A activity doesn’t go too low or too high,” Yi said.

Yi started his research on the enzyme five years ago when looking into Angelman syndrome, another syndrome caused by UBE3A.

“I’d been looking for this switch for several years, and I found it,” Yi said.

“For other mutations that we don’t know of, I think this study gives a road map for how we can study and characterize some of those mutations.”

David Laxton, director of communications for the Autism Society of North Carolina, said breakthroughs in research in North Carolina affect a wide audience because approximately one in every 58 children born in N.C. has autism.

“There are more families dealing with autism in North Carolina than in a full Kenan Stadium,” Laxton said.

In 2014, UNC was ranked the top public institution for autism research worldwide by the Interagency Autism Coordinating Committee, a federal advisory committee.

“It’s just a friendly, collaborative environment, and I think people just work nicely together there, and they’ve been able to make these breakthroughs,” Yi said.

“I think it’s just a combination of people just willing to share their resources and willing to share their ideas here.”

The breakthrough opens up future research into treatments to fix the hyperactive pathways UBE3A takes into the brain.

Yi said the team’s grants, including awards from the National Institutes of Health and the Carolina Institute for Developmental Disabilities, totaled more than $400,000.

“While this doesn’t change how we support families affected by autism today, it’s bringing us a step closer to where we want to be in the future,” said Lauren Turner-Brown, assistant director of the TEACCH Autism Program.

“Having so many smart minds at UNC gives us a good reason to be hopeful,” she said.

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