NARSAD Grant-Funded Research Identifies New Genetic Link to Development of Schizophrenia

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Brain & Behavior Research Foundation 2010 NARSAD Young Investigator Grantee Frederick C. Nucifora, Jr., Ph.D., D.O., M.H.S.
Dr. Frederick C. Nucifora, Jr.

Researchers led by Brain & Behavior Research Foundation 2010 NARSAD Young Investigator Grantee Frederick C. Nucifora, Jr., Ph.D., D.O., M.H.S. have identified a rare gene mutation in a family with a high rate of schizophrenia. The findings were published in the Jan. 22, 2013 Molecular Psychiatry.

"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 Dr. Nucifora, Assistant Professor, Psychiatry & Behavioral Sciences, Johns Hopkins University School of Medicine. "We could definitely use better medicines."

Identifying a mutation in a single family with mental illness does not establish causality, so Nucifora and team went further in their research to determine what impact the mutation has on the function of the gene (NPAS3), which controls the fate of many other genes involved in brain development and metabolism. To do this, the team used new technology that enables the growing of neurons “in a dish.”

"We showed that the mutation does change the function of NPAS3, with potentially harmful effects in neurons," says Nucifora. “The next step is to figure out exactly how the genetic disruption alters neuronal function and how these abnormal neurons influence the broader function of the brain."

The Hopkins research team also included Christopher A. Ross, M.D., Ph.D. and Russell L. Margolis, M.D., who have both been awarded multiple NARSAD Grants.

Read more in Science Daily

Article comments

I have a sibling (brother) w. paranoid-schizophrenia late onset age 36. A maternal grandmother who was placed in a mental institute back in the 1940s (diagnosis unknown)-in her early 40s and a maternal aunt who had intermittant bouts of paranoid behavior and delusions which started in her early 30s. All three had extreme stressors (death of a newborn, loss of a job, domestic violence) but their paranoid & delusional symptoms did not show up until their 30s and 40s. Wonder if there's a gene that links all three together?

I have a brother now 53 who was diagnosed with Schizophrenia at 20 y.o. which has virtually destroyed his life. Unable to converse socially or have relationships, lives mostly in isolation on his own. To add to this I also have Epilepsy disorder and my husband's father, as well as his father's brother and his father's brother's son all have diagnosed Schizoprehrenia and live in the Western region of Melbourne. My brother whom is on a new drug is kind of back to normality but is still unable to socialise normally, experiences daily side effects from the cocktail of medications he takes and is unable to form or make, trust others or have any sort of reasonable quality of life. He has not had a job since his early 20's and he lives on a disability pension and given that it is in both sides of the family are concerned for my youngest son who maybe vulnerable to it genetically.

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