Editor's Choice Academic Journal Main Category: Schizophrenia Also Included In: Genetics Article Date: 24 Jan 2013 - 0:00 PST

Current ratings for: Gene Associated With Schizophrenia Identified

NPAS3 is responsible for regulating and making sure that healthy neurons are consistently developed, particularly in the hippocampus - a region of the brain affected in schizophrenia. An abnormal mutation of this gene was found among certain members of a single family - the mutation caused the NPAS3 to function improperly, which was detrimental to for brain development. The gene assigns instructions for the production of a protein containing 933 amino acids.

The lead author of the study Frederick C. Nucifora Jr., Ph.D., D.O., M.H.S., said:

Schizophrenia is a somewhat common condition, affecting seven in every 1,000 American adults; it is characterized by severe hallucinations, delusions and overall impaired cognition. It is thought to be caused by a mixture of environmental and genetic factors.

The authors believe that studying the biological role of NPAS3 will provide insight into how other genes may also be the cause of mental illnesses like schizophrenia.

The researchers collected blood samples from 34 people with schizophrenia or schizoaffective disorder and analyzed them to study their DNA. Each of the participants belonged to families with a history of mental illness. The scientists were focusing on seeking out people with a NPAS3 mutation, they ended up finding one and carried out a series of blood tests on members of that family, including two parents and four adult children.

In order to determine whether this specific mutation has any effect on the way NPAS3 should normally function, Nucifora and his team carried out a separate experiment. The researchers grew neurons with mutated and normal versions of the gene in a dish and analyzed any significant differences. They found that the normal version of the gene had very long extensions which enables it to make good neuronal connections with other cells - the mutated version had much shorter extensions in comparison.

Nucifora said:

The team is now planning on conducting further research in mice with the NPAS3 mutation.

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Gene Associated With Schizophrenia Identified

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