De novo Gene Mutations Tied to Sporadic Schizophrenia

De novo protein-altering mutations found in just over half of sporadic schizophrenia cases

MONDAY, Aug. 8 (HealthDay News) -- De novo protein-altering mutations, including a disruptive mutation in DGCR2 gene, contribute substantially to the genetic component of schizophrenia, according to a study published online Aug. 7 in Nature Genetics.

Bin Xu, Ph.D., from Columbia University in New York City, and colleagues examined the possibility that rare de novo protein-altering mutations contribute to the genetic component of schizophrenia, by studying the genomes of patients with schizophrenia and their families as well as healthy controls. The exomes of 53 sporadic cases, 22 unaffected controls, and their parents were sequenced and analyzed.

The investigators identified 40 de novo mutations affecting 40 genes in 27 sporadic schizophrenia cases. A potentially disruptive mutation was identified in the gene DGCR2, removed by a recurrent schizophrenia-predisposing 22q11.2 microdeletion. After comparing with rare inherited variants, the identified de novo mutations were found to have greater potential to affect protein structure and function, and they exerted a large excess of nonsynonymous changes in schizophrenia cases.

"Our analysis reveals a major role of de novo mutations in schizophrenia and also a large mutational target, which together provide a plausible explanation for the high global incidence and persistence of the disease," the authors write.

Abstract
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Physician’s Briefing Staff

Physician’s Briefing Staff

Published on August 08, 2011

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