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New research sheds light on possible genetic origin of autism

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Posted at 10:04 PM, Mar 26, 2015
and last updated 2015-03-27 09:20:41-04

SALT LAKE CITY -- Researchers at Johns Hopkins University say they've discovered a new genetic cause of autism, by singling out a gene.

The study focused on a group of 13 girls with severe Autism symptoms. The girls had four genes in common, including a mutation of one gene known as CTNND2, which is known to hamper brain development.

At the University of Utah's Spectrum Disorders Clinic, researchers say the Johns Hopkins study raises the bar for all research on Autism.

"We've worked so hard just to get a foothold on what is the underlying basis of the disorder," said Chris Gregg, a Ph.D. who received an advanced copy of the Hopkins study.

"They actually put that mutation into fish and into mice, and they showed the mutation disrupts developmental processes that are important for brain development," Gregg said, adding, "This discovery does not translate into an immediate therapeutic strategy, but it is a step towards implicating where we would target drugs potentially to intervene at those early development stages."

Gregg said identifying genes like CTNND2 could someday aid in the treatment or perhaps even the prevention of Autism.

The discovery of genes with direct links to Autism does not, however, eliminate environmental factors as a potential cause. Future research may help determine how environmental factors cause genes to mutate or express when present.

For more information on the Johns Hopkins study, click here.