UNC researchers unlocking the mysteries of autism

Advances in sequencing the human genome is helping researchers unlock the mysteries of different diseases and disorders. Billions of genes can be mapped faster and for less cost.

Recent studies took advantage of genome sequencing data from thousands of children with autism and their unaffected parents. Researchers identified new mutations in thousands of genes related to autism spectrum disorder.

“These are mutations that change a single amino acid in the protein from one amino acid to another,” Zylka said.

Zylka and his UNC research team focused on one of the genes called UBE3A, which is found on chromosome 15. It's known for its implications for neurodevelopmental disorders.

They found that a certain chemical reaction with the mutation turned the gene on and it stays on all the time. That's important because UBE3A is an enzyme that destroys other proteins in a cell.

Zylka compares it to the destructive effects of a tornado.

“And there's no way to turn it off,” Zylka said. “This creates chaos in the cell essentially.”

Identifying the type of protein, Zylka says, opens the door to finding therapies for this one form of autism, and perhaps blaze a trail to identify and treat others as well. This could set the stage for developing new therapies to solve the puzzle of autism.

Right now, the best hope for children with autism is early diagnosis, followed by intensive behavioral therapies.

The UNC study is published in the Aug. 13 edition of the journal "Cell.”