Mcqs For Dentistry Moh

Discovery of common genetic cause of autism and epilepsy.


Researchers CHUM Research Centre (CRCHUM) have identified a new gene that predisposes people with autism and epilepsy.

Led by neurologist Dr. Patrick Cossette, the research team found a severe mutation of the synapsin gene (SYN1) in all members of a large French Canadian family with epilepsy, including among them those who have of autismo.También were studied two groups of individuals in Quebec, which allowed us to identify other mutations in the gene SYN1 between 1% and 3.5%, respectively, of those who suffer from autism and epilepsy, while many carriers of the mutation SYN1 showed symptoms of both disorders.

"The results show, for the first time SYN1 the gene's role in autism, in addition to epilepsy, and reinforces the hypothesis that the cause of both diseases is due to this mutución which throws the synaptic function," says Cossette , who is also professor of the Faculty of Medicine, University of Montreal. "So far, no other human had done genetic studies such a demonstration. "

The different forms of autism may be genetic, and almost a third of people with autism also suffer from epilepsy. The cause of this comorbidity is unknown. The operation of the synapsin gene plays a crucial role in the development of the membrane surrounding the neurotransmitters, also referred to as synaptic vesicles. These neurotransmitters ensure communication between neurons. Although, earlier, had already been identified mutations in other genes involved in the development of synapses (the functional between two neurons) This particular mechanism has never been demonstrated in human epilepsy until this study.

The results of this study were published in the latest online edition of Human Molecular Genetics .

• Reference: EurekAlert!. Org , April 8, 2011, by Nathalie Forgue
• Source: Centre hospitalier de l'Université de Montréal . CRCHUM Web.
• Study and citations: SYN1 loss-of-function mutations in ASD and partial epilepsy causing impaired synaptic function. Anna Fassio, Lysanne Patry, Sonia Congi, Franco Onofi, Amélie Piton, Julie Gauthier, Davide Pozzi, Mirko Messa, Enrico Defranci, Manuela Fadda, Anna Corradi, Pietro Baldelli, Line Lapointe, Judith St-Onge, Caroline Meloche, Laurent Mottron, Flavia Valtorta, Dang Khoa Nguyen, Guy A. Rouleau, Fabio Benfenati. Human Molecular Genetics.