London, July 11: An international study led by University of Montreal and CHU Sainte-Justine Hospital researchers has suggested that de novo gene mutations – genetic errors that are present in patients but not in their parents – are more frequent in schizophrenic patients than in normal individuals.
The discovery may enable researchers to define how the disease results from these mutations and eventually develop new treatments for it.
“The occurrence of de novo mutations, as observed in this study, may in part explain the high worldwide incidence of schizophrenia,” said Dr. Guy A. Rouleau, who is also the Director of the CHU Sainte-Justine Research Center and researcher at the University of Montreal Hospital Research Centre.
“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,” said Simon Girard, the student who performed the key experiments that led to the discovery.
“Most of the genes identified in this study have not been previously linked to schizophrenia, thereby providing new potential therapeutic targets,” he added.
Rouleau and his 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, the team analysed approximately 20,000 genes from each participant in the study.
Rouleau and his team were 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. They also give us valuable information about the molecular mechanisms involved in human brain development and function,” said Rouleau.
The discovery is published in Nature Genetics. (ANI)
