A world first: The discovery of a common genetic cause of autism and epilepsy

Discussion in 'Parenting News' started by runawaybunny, Apr 28, 2011.

  1. runawaybunny

    runawaybunny Guest

    Researchers from the CHUM Research Centre (CRCHUM) have identified a new gene that predisposes people to both autism and epilepsy.

    Led by the 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 suffering from epilepsy, including individuals also suffering from autism. This study also includes an analysis of two cohorts of individuals from Quebec, which made it possible to identify other mutations in the SYN1 gene among 1% and 3.5% of those suffering respectively from autism and epilepsy, while several carriers of the SYN1 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," 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."

    The different forms of autism are often genetic in origin and nearly a third of people with autism also suffer from epilepsy. The reason for this comorbidity is unknown. The synapsin gene plays are crucial role in the development of the membrane surrounding neurotransmitters, also referred to as synaptic vesicles. These neurotransmitters ensure communication between neurons. Although mutations in other genes involved in the development of synapses (the functional junction between two neurons) have previously been identified, this mechanism has never been proved in epilepsy in humans until the present study.

    Story Source:
    The above story is reprinted from materials provided by Centre hospitalier de l'Université de Montréal

    Study Reference:
    SYN1 loss-of-function mutations in Autism Spectrum Disorders (ASD) and partial epilepsy cause impaired synaptic function. Anna Fassio, Lysanne Patry, Sonia Congia, 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.

    This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ConductDisorders or its staff.

  2. Steely

    Steely Active Member

    WOW - this is pretty groundbreaking.
  3. HaoZi

    HaoZi Guest

    Kiddo is an Aspie but not an epileptic, her anomaly is a gain on unmapped bands in 9, which I don't have though I'm an Aspie, too. It's the only anomaly she has. Whether I have a different anomaly (or any at all, I know my bio-mom had something extra, too) I won't know until late next month. Maybe I should mail them a copy of her results for additional comparison.
  4. JJJ

    JJJ Active Member

    Wow! We've always noticed that when Tigger seems more "autistic" he is about to have a string of seizures. This makes a lot of sense, hopefully it leads to better treatment.
  5. tiredmommy

    tiredmommy Site Moderator

    Very interesting...
  6. TerryJ2

    TerryJ2 Well-Known Member

    Groundbreaking, indeed.
    My son doesn't have epilepsy that I know of, but his bmom is of French Canadian descent, as well as Irish and Scottish.
    I'll keep reading and waiting ...