Scientists find gene linked to schizophrenia (and to autism)

New study led by University of Montreal scientists identifies genetic association

Montreal, April 12, 2010 – An international study led by Université de Montréal scientists suggests that gene mutations may predispose some individuals to schizophrenia and provides new clues about the causes of this ambiguous disorder. Published today in the Proceedings of the National Academy of Sciences, the findings demonstrate that new mutations in the SHANK3 gene are found in schizophrenic patients.

"That these de novo or new mutations occur in schizophrenia is rather unexpected and may explain why the identification of the genes linked to this disease has been so difficult," says senior author Guy Rouleau, a Université de Montréal professor, director of the Sainte-Justine University Hospital Research Center and a scientist at the Research Centre of the Centre Hospitalier de l'Université de Montréal.

"Our findings show that a significant number of schizophrenia cases are the result of new genetic mutations in the SHANK3 gene. Where previous approaches have failed, our detailed analyses and rich patient database led us to this discovery. We are convinced that future studies will validate the SHANK3 gene as a marker for schizophrenia," continues Dr. Rouleau, who is Canada Research Chair in Genetics of the Nervous System.

"The SHANK3 gene has previously been linked to autism," adds lead author Julie Gauthier, a Université de Montréal researcher. "Not only does this suggest a molecular genetic link between these two neurodevelopmental disorders, it suggests that SHANK3 may have a role in other brain disorders."

SHANK3 is protein involved in maintaining the physical structure of nerve cells. Mutations in this gene result in specific abnormalities in cell shapes. These deformations have been observed in some schizophrenia patients, providing further evidence of the importance of the SHANK3 gene in this disorder.

These findings were made possible through the collaboration of several institutions such as the Harvard Medical School, McGill University and the Université Paris Descartes; please read on for complete list of funders and partners.

Affecting approximately one percent of the population, schizophrenia is a chronic psychiatric disorder characterized by disturbances in thinking, behaviour and emotion. Symptoms include delusions, hallucinations and withdrawal from social activity.

This study was funded by Genome Canada, Génome Québec, the Université de Montréal and the Canada Foundation for Innovation.

The article, "De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia," was coauthored by Julie Gauthier, Nathalie Champagne, Edna Brustein, Mathieu Lapointe, Huashan Peng, Marie-Pierre Dubé, Pierre Drapeau, Philip Awadalla and Guy Rouleau of the Université de Montréal, Fadi F. Hamdan and Mark E. Samuels of the Sainte-Justine University Hospital Research Center; Eric A. Stone of North Carolina State University; Philip A. Barker of the Montreal Neurological Institute; Anjené M. Addington and Judith L. Rapoport of the National Institute of Mental Health; Lynn E. DeLisi of the Harvard Medical School; Marie-Odile Krebs and Fayçal Mouaffak of the Université Paris Descartes; Ferid Fathalli, Ali P. Haghighi and Salvatore Carbonetto of McGill University / McGill University Health Centre; Ridha Joober of the Douglas Mental Health University Institute; Christian Néri of the Centre Paul Broca / INSERM.

The Université de Montréal name can be adapted to University of Montreal (but never Montreal University).

About the Proceedings of the National Academy of Sciences: www.pnas.org About the Université de Montréal: www.umontreal.ca/english About the Centre Hospitalier de l'Université de Montréal : www.crchum.qc.ca About the Sainte-Justine Hospital Research Center: www.recherche-sainte-justine.qc.ca/en

This article is more hype. There are several genes already associated with schizophrenia. As the Dr said, "We are convinced that future studies will validate the SHANK3 gene as a marker for schizophrenia,". Please send money for more studies.

Even with the connected genes, chemicals can turn genes on and off, even chemicals like thermosil.

I agree. But no one has seriously looked at why the Amish has such a low rate vs neighboring non Amish by a factor of 1000. Both do have very different lifestyles and the autism rate is very pronounced. The other tibit is Somalian refugees settling in the US who never had autism in their family living in African villages suddenly within the first generation born is exhibiting autism rates similar to local Americans. Many of these refugees come from rural villages where vaccines are not as numerous as pre school kids and diet is very different from urban/suburban Americans. Granted that without looking at the events closely one cannot jump to conclusions, but someone needs to do a scientific study on why such disparities.

My mother, daughter, son and I are all Celiacs. My son is the only one of us who has Type one diabetes. My mother and I have hypothyroidism.

The genes are like having baking soda in a bowl. It won’t fuzz until you add the vinegar. Until then, it remains inert.

If one has the gene for autism, diabetes, cancer, etc, you may or may not have that gene activated by an environmental trigger.

Especially since we’ve seen stories posted recently about how things that people take into their bodies can turn genes on or off. Yes there may be a genetic component that has to be present in a person, but if mercury, thimerosal, synthetic squalene, etc triggers those autism genes in those people, you can’t just say “It’s genetic”, if they never had the vaccines the trigger would never have been pulled.

You're right, Secret - it could be something like a threshold effect...

ping

And given the fact that the vaccine schedule for these kids today has SO many more shots on it than even 20 years ago, those kids’ immune systems are hammered.

And don’t forget the doctors who are out there talking about how this is not the way to go about ramping up antibodies, by bypassing the skins’ defenses and such, but injecting this directly into the body. Plus combining three vaccines in one shot (MMR) that a lot of kids have real problems with. There’s nothing natural about the exposure when it’s injected. It bypasses normal defense mechanisms.

The only vaccines I’d take nowadays are for tetanus and rabies. Any of them used on an emergency basis.

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