Navigation Links
A world first: The discovery of a common genetic cause of autism and epilepsy
Date:4/8/2011

Montreal, Canada, April 8, 2011 - 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 Universit de Montral.

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.


'/>"/>

Contact: Nathalie Forgue
nathalie.forgue.chum@ssss.gouv.qc.ca
514-890-8000 x23674
Centre hospitalier de l'Universit de Montral
Source:Eurekalert

Page: 1

Related biology news :

1. BIO-key(R) International To Exhibit at Oracle OpenWorld
2. World leaders in infectious diseases convene to discuss emerging global viruses
3. Researchers document worlds mammals in crisis
4. Complete Genomics launches, becomes worlds first large-scale human genome sequencing company
5. Europe rallies behind nanotechnology to wean world from fossil fuels
6. Smithsonian perspective: Biodiversity in a warmer world
7. Take advantage of reduced pre-registration rates for the IOF World Congress on Osteoporosis
8. World Food Day brings attention to food security around the globe
9. Fitness in a changing world
10. Researchers uncover worlds oldest fossil impression of a flying insect
11. Providing toilets, safe water is top route to reducing world poverty: UN University
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/23/2017)... -- Hunova, the first robotic gym for the rehabilitation and functional motor sense ... Genoa, Italy . The first 30 robots will be available ... USA . The technology was developed and patented at the IIT ... Movendo Technology thanks to a 10 million euro investment from entrepreneur Sergio ... ...
(Date:4/19/2017)... The global military biometrics market ... by the presence of several large global players. The ... major players - 3M Cogent, NEC Corporation, M2SYS Technology, ... 61% of the global military biometric market in 2016. ... military biometrics market boast global presence, which has catapulted ...
(Date:4/11/2017)... April 11, 2017 Crossmatch®, a globally-recognized ... solutions, today announced that it has been awarded ... Projects Activity (IARPA) to develop next-generation Presentation Attack ... "Innovation has been a driving force within ... will allow us to innovate and develop new ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... The CRISPR-Cas9 ... overexpression experiments and avoiding the use of exogenous expression plasmids. The simplicity of ... performing systematic gain-of-function studies. , This complement to loss-of-function studies, such as ...
(Date:10/11/2017)...  VMS BioMarketing, a leading provider of patient support solutions, ... Educator (CNE) network, which will launch this week. The VMS ... care professionals to enhance the patient care experience by delivering ... health care professionals to help women who have been diagnosed ... ...
(Date:10/11/2017)... ... October 11, 2017 , ... Singh Biotechnology today announced ... to SBT-100, its novel anti-STAT3 (Signal Transducer and Activator of Transcription 3) B ... to cross the cell membrane and bind intracellular STAT3 and inhibit its function. ...
(Date:10/10/2017)... ... , ... Dr. Bob Harman, founder and CEO of VetStem Biopharma, Inc. ... The event entitled “Stem Cells and Their Regenerative Powers,” was held on August ... MPVM was joined by two human doctors: Peter B. Hanson, M.D., Chief of Orthopedic ...
Breaking Biology Technology: