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.
Autism and schizophrenia link
"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.
Partners in research:
This study was funded by Genome Canada, Génome Québec, the Université de Montréal and the Canada Foundation for Innovation.
About the study:
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.
Note to editors:
The Université de Montréal name can be adapted to University of Montreal (but never Montreal University).
On the Web:About the Proceedings of the National Academy of Sciences: www.pnas.org
Sylvain-Jacques Desjardins | EurekAlert!
Building a brain, cell by cell: Researchers make a mini neuron network (of two)
23.05.2018 | Institute of Industrial Science, The University of Tokyo
Research reveals how order first appears in liquid crystals
23.05.2018 | Brown University
At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.
At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...
There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?
At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...
A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.
The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...
02.05.2018 | Event News
13.04.2018 | Event News
12.04.2018 | Event News
23.05.2018 | Life Sciences
23.05.2018 | Life Sciences
23.05.2018 | Physics and Astronomy