Scientists at the University of North Carolina School of Medicine have found that a group of enzymes called topoisomerases might be the cause of autism spectrum disorder.
Topoisomerases are enzymes found in all human cells. Their main function is to untangle DNA when it becomes overwound: a common occurrence that can interfere with key biological processes.
“Our study shows the magnitude of what can happen if topoisomerases are impaired,” said Mark Zylka, PhD, associate professor in the Neuroscience Center and the Department of Cell Biology and Physiology at UNC. “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.”
“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,” he adds.
This study can help explain why some people with mutations in topoisomerases develop autism and other neurodevelopmental disorders.