Common genetic cause of autism and epilepsy discovered

Scientists from the Centre Hospitalier de l’Université de Montréal (CHUM) in Canada have identified several genes which predispose towards autism spectrum disorders, many of which also relate to synaptic function. The study of a large French-Canadian family suffering from epilepsy and autism revealed a severe mutation in the synapsin gene (SYN1). The study also involved two groups of Québécois individuals, and the scientists identified mutations in this particular gene among 1% and 3.5% of sufferers of autism and epilepsy, respectively. Several carriers of the SYN1 mutation also displayed symptoms of both autism and epilepsy.

This is the first genetic study of humans to demonstrate that a deregulation of the function of synapse may be the cause of both autism and epilepsy. Over a third of people with autism also suffer epilepsy.

Source: Human Molecular Genetics

First published in April 2011

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