Researchers Show how Single Genetic Mutation can Cause Autism

Single Genetic Mutation Can Cause Austim
Researchers at the University of North Carolina are the first to show a specific genetic mutation that causes autism. Photo by Dubova/Shutterstock

CHAPEL HILL, N.C., Aug. 7 ( Stephen Feller ) — While studying the development of a rare neurological disorder called Angelman syndrome, researchers discovered the way one specific genetic mutation can cause autism — and they may have a treatment to reverse it.

Only about 27 genes have been identified with high confidence by researchers as causing autism when mutated, however hundreds more have been identified as potentially causing the condition.

“Genetic studies are showing that there will be about 1,000 genes linked to autism,” said Dr. Mark Zylka, an associate professor of cell biology and physiology at the University of North Carolina, in a press release. “This means you could mutate any one of them and get the disorder. We found how one of these mutations works.”

Researchers studying Angelman syndrome noticed mutations near the gene responsible for regulating the enzyme UBE3A, which is important for neural function and brain development. UBE3A imbalance is already thought to be a cause of autism because the genetic mutation is often seen in people with the condition. In Angelman, though, the mutations delete the enzyme in people, while the mutations in autism cause it to be doubled or tripled.

Using an autistic child’s cell lines from the Simons Simplex Collection, researchers found the gene mutation which turns off the switch tightly controlling UBE3A. The researchers sequenced genes from the child’s parents’ cell samples, finding the parents did not have the mutation the child did.

“When this child’s mutation was introduced into an animal model, we saw all these dendritic spines form on the neurons,” Zylka said. “We thought this was a big deal because too many dendritic spines have been linked to autism.”

Zylka said the researchers may also have a way to decrease UBE3A with drugs that control the protein kinase A. Two compounds were seen in the lab to “substantially” reduce the enzyme’s activity in neurons.

The study is published in Cell.


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