A new research study suggests de novo mutations — genetic mistakes that are present in people with a disease, but not in their parents — are more frequent in individuals with schizophrenia.
An international group of scientists led by Guy A. Rouleau, M.D., Ph.D., of the University of Montreal believe the finding will help improve clinical understanding of schizophrenia and may lead to new treatment approaches.
“The occurrence of de novo mutations, as observed in this study, may in part explain the high worldwide incidence of schizophrenia,” said Rouleau.
“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,” added researcher and graduate student Simon 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, as many as 24 million individuals worldwide suffer from schizophrenia and over half of them are not receiving appropriate care to relieve their symptoms.
In the study, researchers used new 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, researchers analyzed approximately 20,000 genes from each participant in the study. The research team was 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,” said 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 an emerging hypothesis that this type of mutation plays a role in several diseases affecting brain development such as autism, schizophrenia and mental retardation.
The discovery is published in Nature Genetics.
Source: University of Montreal