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Gene Study Uncovers More Autism Clues
Date:12/12/2012

ng to all forms of autism. They noted this development could lead to improved treatments for both fragile X and autism.

"We can now look for changes in the FMRP binding sites of genes to identify potential new genetic links to autism spectrum disorders," said Neelanjan Mukherjee, a Duke post-doctoral scientist who helped with the research.

Autism Speaks' Smith agreed that the research could give insights into autism's cause and potential treatments.

"These researchers reveal the precise molecular mechanisms by which FMRP communicates and changes how multiple genes function," he explained. "They identify many of these 'target' genes, and discovered that some of them are the same as those previously linked to seemingly distinct syndromic forms of autism spectrum disorders."

Besides delineating lines between fragile X and autism, the findings "will enable basic researchers and drug discovery scientists to be more exacting in their search for novel therapeutics," Smith added.

The researchers noted that additional fragile X syndrome research involving mice revealed abnormal protein production was found in the ovary as well as the brain, which confirms that absence of FMRP protein causes ovarian insufficiency, at least in mice.

About 2 to 6 percent of children with autism are also diagnosed with fragile X syndrome. Meanwhile, about one-third of patients with fragile X fall on the autism spectrum. The study authors pointed out, however, that people with fragile X may have almost no disability while others have more severe physical and intellectual impairments.

More information

The U.S. National Library of Medicine has more about fragile X syndrome.

-- Mary Elizabeth Dallas

SOURCE: Daniel Smith, PhD, senior director, discovery neuroscience, Autism Sp
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