Potential cause of autism discovered

Problems with a key group of enzymes called topoisomerases can have profound effects on the genetic machinery behind brain development and potentially lead to autism spectrum disorder (ASD), according to researchers at the University of North Carolina School of Medicine. These findings represent notable progress in research for environmental factors behind autism.

“Our study shows the magnitude of what can happen if topoisomerases are impaired,” said senior study author Mark Zylka, PhD. “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.”

Researchers think these results could have significant implications:

• for the prevention and diagnosis of autism spectrum disorders (ASD)
• for explaining why some people with mutated topoisomerases get autism
• by leading to a unified theory of how autism-linked genes work

“This could point to an environmental component to autism,” said Zylka. “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. ”

Topiosomerases 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.

Most of the known topoisomerase-inhibiting chemicals are used as chemotherapy drugs. Zylka said his team is searching for other compounds that have similar effects in nerve cells.

 “If there are additional compounds like this in the environment, then it becomes important to identify them,” said Zylka. “That’s really motivating us to move quickly to identify other drugs or environmental compounds that have similar effects — so that pregnant women can avoid being exposed to these compounds.”

Source: 

  Researchers discover a potential cause of autism

Photo credit:  Concept:  Mark Zylka; Illustration: Janet Iwasa.

©Mary M Conneely T/A Advocacy in Action