Discovery of Gene Variant Could Lead to Life-Changing Therapies for ASD

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Autism spectrum disorder is four times more likely to occur in men than women–this much we already know. But a Johns Hopkins-led team decided to upend traditional research tactics and studied rare families, namely those with more than one female diagnosed with autism.

Guess what? They found CTNND2,  a “rare genetic variant (that) offers important insights into the root causes of autism,” the researchers say. They believe their unconventional method could potentially be used to identify “other genetic causes of autism and other complex genetic conditions,” according to an article published in HUB, the Johns Hopkins University’s online center for news.

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Research findings from 13 families were compared to the gene sequences of thousands of people from a public database. “They found four potential culprit genes and focused on one, called CTNND2, because it fell in a region of the genome known to be associated with another intellectual disability,” the article states. Studying zebrafish, mice, and human brains from cadavers, they learned that the protein this gene produces affects the way other genes are regulated. It was found in much higher concentrations in fetal brains than in adult brains or other tissues and, although rare, probably plays a key role in development. Researchers hope this will educate further studies on autism.

The point—and a good one, at that—is simple: in order to develop autism spectrum therapies, we need to fully understand where the disorder comes from in the first place. And Chakravarti’s team took a vital first step toward that goal. Next up? The team is currently  applying the same tactics to discovering the functions of the other three genes identified as possibly associated with autism.

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