Newly Identified Gene Variant in Women With Autism Could Lead to Life-Changing Therapies

ctnnd2-gene1Autism 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. And, they suggest, their unconventional method can 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.

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. When they studied the gene’s effects in zebrafish, mice, and cadaveric human brains, the research group found that the protein it makes affects how many other genes are regulated. The CTNND2 protein was found at far higher levels in fetal brains than in adult brains or other tissues, Chakravarti says, so it likely plays a key role in brain development. While autism-causing variants in CTNND2 are very rare, Chakravarti says, the finding provides a window into the general biology of 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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