Gene Mutation Found In Both Autism and Epilepsy

Synapsin gene (SYN1) loss of function found in patients with autism and epilepsy

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) For the first time, science has been able to show the role that the synapsin (SYN1) mutation plays in both autism and epilepsy.

The synapsin gene contributes to the development of membranes surrounding neurotransmitters responsible for communication between neurons. This discovery will allow scientists to better understand these two devastating disease linked with brain development.

Almost 33 percent of people with autism also suffer from some form of epilepsy.

"Better understanding of the genetic links may lead to new therapies for epilepsy and autism."

Study lead Dr. Patrick Cossette, a neurologist and his research team found the same mutation of SYN1 in all members of a Canadian family suffering from epilepsy.

Some of them are also suffer from autism. Dr. Cossette’s team also included analysis of two groups of similarly situated individuals from Quebec to verify their findings.

Mutations in other genes involved in the development of synapses have been identified prior to this study. This mutation has never been proved in epilepsy in humans until the present study.

In Depth

  • In the cohort study, several carriers of the SYN1 mutation had symptoms of both disorders.
  • The synapsin gene plays critical role in the development of the synaptic vesicles.
  • These synaptic vesicles are supposed to guarantee communication between neurons
Reviewed by: 
Review Date: 
April 8, 2011
Last Updated:
April 16, 2011