Genetic errors that occur in individuals but not in their parents – known as ‘de novo mutations’ – are more frequent in schizophrenic patients than others, 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 yesterday (July 11) in Nature Genetics, may enable researchers to define how the disease results from these mutations and eventually develop new treatments.
To identify genetic mutations associated with schizophrenia, researchers analyzed approximately 20,000 genes from each participant in the study. Schizophrenia is a major mental disorder characterized by a wide spectrum of symptoms, including delusions, hallucinations, disturbances in thinking, and deterioration of social behavior.
“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.
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 medical care.