New research sheds light on possible genetic origin of autism

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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.


  • bob

    There is a strong genetic component, but personally I think “autism” has a range of causes. It’s more a description of behaviors than a “disease.”

  • Chris

    There is defiantly a genetic factor my nephews have it their father’s siblings have it, judging by my disabled great aunt’s behavior we suspect had it, but back in her day they just labeled her as “retarded or mentally disabled.” At least they know what autism is no days and can treat it.

  • The Yakima Kid

    Bob, you forgot wood smoke. At the meeting to ban burning wood for heat in the winter, there was a woman who made it clear that wood smoke was the cause of autism.

    Meanwhile, over on the “RFK Junior must be right because he’s a celebrity AND a Kennedy” discussion, we have seen the revival of the miasma theory of disease from one individual who insists polio only spreads in places with poor sanitation, such as Pakistan.

    I’m waiting for vitalism to pop up next.

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