UNC researchers uncover potential cause for autism

Chapel Hill, N.C. — Research on a key group of enzymes has led scientists at the University of North Carolina School of Medicine to discover a potential cause for autism spectrum disorder.

Their study, published Wednesday in the journal Nature, focuses on how a chemical that is commonly used in chemotherapy drugs damages enzymes called topoisomerases. They found that the impaired enzymes significantly interfered with neurological development.

The finding could have important implications for detection and prevention of autism, the researchers said.

“Our study shows the magnitude of what can happen if topoisomerases are impaired,” senior study author Mark Zylka, associate professor in the Neuroscience Center and the Department of Cell Biology and Physiology at UNC, said in a statement. “Inhibiting these enzymes has the potential to profoundly affect neurodevelopment — perhaps even more so than having a mutation in any one of the genes that have been linked to autism.”

Zylka said the discovery will push researchers to look at an environmental component to developmental disorders.

“A temporary exposure to a topoisomerase inhibitor in utero has the potential to have a long-lasting effect on the brain by affecting critical periods of brain development.”