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Autism and schizophrenia: Scientists measure gene mutation rate

The findings show how new or de novo gene mutations – alterations of the cell’s DNA – play a role in these devastating conditions. Published in the American Journal of Human Genetics, this study has implications for disease prevalence and severity.

“This study emphasizes the importance of de novo mutations as genetic factors predisposing to autism and schizophrenia. We found an increased frequency of severe de novo mutations in critical brain genes in both of these diseases,” says senior author and University of Montreal professor, Guy Rouleau.

“Harmful de novo mutations, as observed in this study, may in part explain the high global incidences of autism and schizophrenia,” adds Dr. Rouleau, who is also director of the Sainte-Justine University Hospital Research Center and a scientist at the University of Montreal Hospital Research Centre.

via Autism and schizophrenia: Scientists measure gene mutation rate.

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