Autism, epilepsy have common genetic cause: Study

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Researchers in Montreal have discovered a gene that predisposes people to both

autism and epilepsy.

Epilepsy is a brain disorder that causes regular and unpredictable seizures, and

autism is a developmental disorder that affects social and communication skills.

About 85 out of 10,000 Canadians suffers from some form of epilepsy, while

between 60 and 70 out of 10,000 Canadians have some form of autism.

Autism, epilepsy have common genetic cause: Study

It's long been thought there is a connection between the two disorders, as about

one third of people with autism also suffer from epilepsy.

A team led by Dr. Cossette from the University of Montreal may have

pinpointed that connection.

The researchers studied a large French-Canadian family, all of whom suffered

epilepsy and some of whom suffered autism. They found all members of the family

had severe mutation in the synapsin gene (SYN1).

The researchers also looked at SYN1 gene in other Quebecers with autism and

epilepsy and found mutations in 1% of autistic patients and 3.5% of epileptic

patients.

What's more, some of the patients with the gene mutation displayed symptoms of

both disorders.

" 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, "

said Cossette in a press release. " Until now, no other genetic study of humans

has made this demonstration. "

The SYN1 gene is necessary for the development of the membrane surrounding

neurotransmitters, Those neurotransmitters, in turn, allow communication between

the neurons, core components of the nervous system, which includes the brain and

spinal cord.

Cossette believes these new findings will pave the way for better treatments for

both epilepsy and autism.