July 11, 2011
New Genetic Clues For Schizophrenia
De novo mutations more frequent
De novo mutations "“ genetic errors that are present in patients but not in their parents "“ are more frequent in schizophrenic patients than in normal individuals, according to an international group of scientists led by Dr. Guy A. Rouleau of the University of Montreal and CHU Sainte-Justine Hospital. The discovery, published today in Nature Genetics, may enable researchers to define how the disease results from these mutations and eventually develop new treatments for it.
Schizophrenia is a major mental disorder characterized by a wide spectrum of symptoms, including delusions, hallucinations, disturbances in thinking, and deterioration of social behaviours. According to the World Health Organization, as many as 24 million individuals worldwide suffer from schizophrenia and over half of them are not receiving appropriate care to relieve their symptoms.
Dr. Rouleau's team used modern DNA sequencing technologies to identify genetic changes in patients with schizophrenia whose parents showed no signs of the disease. To identify genetic mutations associated with schizophrenia, Dr. Rouleau and his team analysed approximately 20,000 genes from each participant in the study. The research team was especially interested in "de novo" mutations, meaning those that are present in patients but absent in their parents.
"Our results not only open the door to a better understanding of schizophrenia," adds Dr. Rouleau. "They also give us valuable information about the molecular mechanisms involved in human brain development and function."
The identification of de novo mutations in schizophrenia supports the hypothesis proposed by Dr. Rouleau in 2006, that this type of mutation plays a role in several diseases affecting brain development such as autism, schizophrenia and mental retardation.
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