Common genetic cause of autism, epilepsy

MONTREAL, April 8 (UPI) -- Researchers in Canada say they discovered a new gene that predisposes people to both autism and epilepsy.

Study leader Dr. Patrick Cossette of the Universite de Montreal and the research team found a severe mutation of the synapsin gene -- SYN1 -- in all members of a large French-Canadian family with members suffering from epilepsy and autism.


The analysis of two cohorts of individuals from Quebec made it possible to identify other mutations in the SYN1 gene among 1 percent with autism and 3.5 percent with epilepsy, while several carriers of the SYN1 mutation displayed symptoms of both disorders, Cossette said.

"The results show for the first time the role of the SYN1 gene in autism, in addition to epilepsy, and strengthen the hypothesis that a deregulation of the function of synapse because of this mutation is the cause of both diseases," Cossette says in a statement. "Until now, no other genetic study of humans has made this demonstration."

The study, published online in Human Molecular Genetics, says the different forms of autism are often genetic in origin and nearly one-third of people with autism also suffer from epilepsy, but the reason for this co-morbidity is unknown.


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