Johns Hopkins researchers have identified a rare gene mutation in a single family with a high rate of schizophrenia, adding to evidence that abnormal genes play a role in the development of the disease.
The researchers, in a report published in the journal Molecular Psychiatry, say that family members with the mutation in the gene Neuronal PAS domain protein 3 (NPAS3) appear at high risk of developing schizophrenia or another debilitating mental illnesses.
Normally functioning NPAS3 regulates the development of healthy neurons, especially in a region of the brain known as the hippocampus, which appears to be affected in schizophrenia. The Johns Hopkins researchers say they have evidence that the mutation found in the family may lead to abnormal activity of NPAS3, which has implications for brain development and function.
"Understanding the molecular and biological pathways of schizophrenia is a powerful way to advance the development of treatments that have fewer side effects and work better than the treatments now available," says study leader Frederick C. Nucifora Jr., Ph.D., D.O., M.H.S., an assistant professor of psychiatry and behavioral sciences at the Johns Hopkins University School of Medicine. "We could definitely use better medicines."
Along with environmental factors, it is widely believed that many genes play some role in causing schizophrenia, a disease characterized by a variable combination of hallucinations, delusions, impaired cognition and a loss of drive and initiative. The disorder strikes an estimated seven in every 1,000 adults in the United States. While the Johns Hopkins experiments to date show that the NPAS3 mutation is rare, Nucifora says learning as much as possible about the biological role of NPAS3 will likely lead to a better understanding of how other genes contribute to the development of schizophrenia, even in the absence of the NPAS3 mutation.
For the study, Nucifora and his
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Johns Hopkins Medicine