Genetic mutation identified in schizophrenia risk


Research recently published in the journal Molecular Psychiatry found that one little gene might have the potential to cause big mental problems.

Scientists at Johns Hopkins University identified that a mutation in the gene Neuronal PAS domain protein 3 (NPAS3) might be responsible for the development of mental illnesses like schizophrenia.

All in the family

The study examined members of a family that had a high incidence of mental illness--the mother and her two children all had schizophrenia, while another child suffered from depression. All members were shown to have the same genetic mutation in the NPAS3 gene.

And while the researchers aren't sure how the genetic mutation--where an isoleucine took the place of a valine--is responsible for affecting the function of a gene, they carried out a test to see how the gene would react if it were not mutated. In the experiment, they found that a normal version of this gene was able to make "good neuronal connections with other cells." Lead study author, Frederick C. Nucifora Jr., elaborates:

"We showed that the mutation does change the function of NPAS3, with potentially harmful effects in neurons. 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 study is encouraging in that it may help other researchers determine what other genes might be responsible for schizophrenia expression as a genetic problem.

The research team plans to continue their work on lab rats with the NPAS3 mutation. Nucifora notes that mice with the genetic mutation should show impairments when it comes to memory and learning, as well as social behavior.

"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," he said.

Source: Medical News Daily