Common Genetic Cause of Autism and Epilepsy Discovered

By Butterfly Effects Editorial Staff   |   04/28/2011   |   comments
Common Genetic Cause of Autism and Epilepsy Discovered
Newly released research has illuminated a genetic component common to both autism and epilepsy. Researchers from the CHUM (Centre Hospitalier de l'Université de Montréal) Research Center have identified a gene that predisposes people to both autism and epilepsy.

The study centered around a French-Canadian family with a history of epilepsy and autism. Led by neurologist Dr. Patrick Cossette, the research team found a severe mutation of the synapsin gene (SYN1) in all members of the family suffering from epilepsy or autism.

"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 synapse function because of mutation is the cause of both diseases," notes Cossette, who is also a professor with the Faculty of Medicine at the Université de Montréal.

He adds that, "until now, no other genetic study of humans has made this demonstration."

Autism is generally thought to have a strong genetic component, (and nearly a third of people with autism also suffer from epilepsy) but a possible mechanism has not, until now, been demonstrated. As well, the reason for autism/epilepsy comorbidity is currently unknown, but research such as Dr. Cossette's offer precious clues. The synapsin gene plays a crucial role in the development of the membrane surrounding neurotransmitters that ensure communication between neurons. Although mutations in other genes involved in the development of synapses (the junction between two neurons) have previously been identified, this mechanism had never been shown in patients with epilepsy until the present study.

The results of the study were published in the latest online edition of Human Molecular Genetics. They provide a possible key to a better understanding of the common cause of epilepsy and autism, and will make it possible to gain a better grasp of the pathophysiology of these devastating diseases. The research will also contribute to the development of new treatment strategies.

Adapted from a Science Daily article.

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