The de novo mutations, those genetic errors that are present in patients but not in their parents, are more frequent in schizophrenic patients than in the rest of the population, according to an international group led by Guy A. Rouleau, of the University of Montreal and the CHU Sainte-Justine Hospital, in Canada.

The discovery, published last Sunday in Nature Genetics, could allow researchers to define how the disease appears from these mutations and develop a new treatment for this pathology, a major mental disorder characterized by a wide spectrum of symptoms, such as delusions, hallucinations, thinking problems and deterioration of the social behaviors

According to Rouleau, director of the CHU Sainte-Justine Research Center and researcher of the University of Montreal Hospital Research Center, "the incidence of Novo mutations, as observed in this study, may, in part, explain the high global incidence of schizophrenia. "According to the World Health Organization (WHO), 24 million of individuals could suffer schizophrenia worldwide, and about half of them would not receive treatment for their symptoms.

For Simon Girard, the student who performed the key experiments that led to this discovery, "since mutations are located in several different genes, we can now begin to establish genetic networks that define how these genetic mutations predispose to schizophrenia." "Most of the genes identified in this study had not previously been linked to schizophrenia, thus providing potential new therapeutic targets," he adds.

Rouleau used modern DNA sequencing technology to identify genetic changes in patients with schizophrenia whose parents showed no signs of having the disease. His team analyzed about 20,000 genes from each study participant, looking especially at de novo mutations, and pointing out those that were present in the patients but not in their parents.

"The results have provided us with valuable information about the molecular mechanism involved in the development and functioning of the human brain"

"Our results not only open the door to the possibility of better understanding schizophrenia, but have also provided us with valuable information about the molecular mechanism involved in the development and functioning of the human brain," he says.

The identification of de novo mutations in patients with schizophrenia supports the hypothesis, proposed by Rouleau in 2006, that this type of mutations play an important role in several diseases that affect brain development, such as autism, schizophrenia or Mental retardation.


Autism: New Mutations, Genes, and Pathways (November 2019).