New Genetic Clues for Schizophrenia

July 11, 2011

According to an international assembly of scientists, de novo mutations occur more often in schizophrenic patients than in mentally healthy people.

According to an international assembly of scientists, genetic faults that are found in patients but not in their parents, known as de novo mutations, occur more often in schizophrenic patients than in mentally healthy people.

The discovery may aid researchers in defining how Schizophrenia is an outcome of these mutations, which will hopefully lead to eventually developing new treatments for the disease.

The group of scientists was chaired by Dr. Guy A. Rouleau, a researcher of the University of Montreal and the director of the CHU Sainte-Justine Hospital, who stated that "the occurrence of de novo mutations, as observed in this study, may in part explain the high worldwide incidence of schizophrenia.”

In 2006, Rouleau proposed that that de novo mutations are responsible for playing a role in several diseases affecting brain development such as autism, schizophrenia and mental retardation.

Rouleau and his fellow scientists used modern DNA sequencing technologies to categorize genetic alterations in patients suffering from schizophrenia whose parents had exhibited no signs of the disease.

Rouleau and his team assessed roughly 20,000 genes from each participant in the study in order to classify genetic mutations linked to schizophrenia. The researchers were particularly concerned with de novo mutations.

They found that de novo mutations are more likely to occur in patients who suffer from schizophrenia than other individuals.

This discovery would not have been made without the aid of a student by the name of Simon Girard, whose experiments led to the breakthrough.

"Because the mutations are located in many different genes, we can now start to establish genetic networks that would define how these gene mutations predispose to schizophrenia,” explained Girard. “Most of the genes identified in this study have not been previously linked to schizophrenia, thereby providing new potential therapeutic targets."

According to the World Health Organization, over 50% of the twenty-four million individuals in the world live with schizophrenia are not receiving suitable medical attention to relieve their symptoms.

"Our results not only open the door to a better understanding of schizophrenia," concluded Dr. Rouleau. "They also give us valuable information about the molecular mechanisms involved in human brain development and function."

This research is published in Nature Genetics.