Researchers May Have Found Genetic Link for Some Types of Autism


Researchers at the Washington University School of Medicine have linked mutations without a single gene to autism. The gene, also associated with a rare tumor syndrome, is found in patients with neurofibromatosis type 1 (NF1).

The researchers analyzed 531 patients from the United States, Belgium, the United Kingdom, and Australia. They found that most NF1 patients also exhibit autistic behaviors. The researchers found that the gene mutation is associated with autism spectrum disorders. They hope to look "downstream" from the gene to find common pathways for the general population as a potential autism screening test.

NF1 is a result of a mutation to the NF1 gene, which in turn is responsible for a specific protein's production.

That protein, neurofibromin, is considered a "tumor suppressor" in the body. Although scientists are not sure, they believe that some of the neurological symptoms common to NF1 patients could also be present in autistic patients with a similar gene mutation.

The real hope, researchers say, is that the NF1 link could lead to more genetic research for autism's roots. Although the genetic findings with NF1 are specific to NF1 patients, it could have broader implications for other genetic research for autism. It's believed that autism spectrum disorders are influenced by multiple genes, so this research could provide a pathway towards finding more.




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