Western University professor Shiva Singh. Photo courtesy of mediarelations.uwo.caWestern University professor Shiva Singh. Photo courtesy of mediarelations.uwo.ca
London

Multiple Gene Mutations Behind Schizophrenia

Western University researchers studying identical twins have made a discovery that could potentially help doctors to better treat schizophrenia.

DNA samples from two sets of a rare type of identical twins and their parents were taken as part of the study. In both sets of twins, one twin had been diagnosed with schizophrenia while in their 20s. Researchers mapped out the complete genetic roadmap of each twin, discovering that the twins' genomes were not identical. The twin with schizophrenia possessed a different set of gene mutations.

“The bottom line is no two patients affected with schizophrenia have identical mutations – every patient is different. Therefore, the same medication could not be used to treat these patients,” said Shiva Singh, study author and professor at Western’s Faculty of Science. “Any personalized medicine must be based on the biochemical pathways that are affected in each particular patient.”

Singh, along with Western researcher Richard O'Reilly and Christina Castellani from Johns Hopkins University School of Medicine in Baltimore, found the twins' differences arise through new and independent mutations in the two individuals. Those gene mutations continue to build and increase the genetic difference between the twins over time, with mutations more common in the schizophrenic twin.

Past genetic research has found that no single gene defect causes schizophrenia, but that it's a variety of mutations in more than 100 genes.

Singh notes the study now gives reasonable grounds to scan a patient’s complete genome sequence to help find the mutations that contribute to an individual's schizophrenia. This step will help doctors create individualized treatment plans for this devastating mental disorder that affects more than 21 million people globally.

The study was published in the journal Clinical and Translational Medicine in November.

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