Bethesda, Md. Scientists have provided new insight into how a gene is related to schizophrenia. In a study to be published in the August 17 issue of the Journal of Biological Chemistry, Amanda J. Law, Medical Research Council Fellow and Associate Professor at the University of Oxford, United Kingdom, and Visiting Scientist at the National Institutes of Health (NIH), along with colleagues at NIH describe for the first time a genetic variation that causes a gene to be overexpressed in the human brain. These results may provide a new way to design better drugs to treat schizophrenia.

Although the exact causes of schizophrenia are yet to be determined, scientists agree that the disease is in part due to genetic variations, Law says. These variations are not simple to understand because they dont directly disturb the function of proteins. In our study, we identified some clues as to what goes wrong with one of these DNA variations.

The study was selected as a Paper of the Week by the journals editors, meaning that it belongs to the top one percent of papers reviewed in significance and overall importance.

Scientists originally found in an Icelandic population that genetic variations in a DNA sequence close to a gene that produces a protein called Neuregulin 1 were associated with schizophrenia, but how the Neuregulin 1 gene was affected remained unknown.

In 2006, Law and colleagues found that one of these DNA variations is associated with increased expression of a novel type of Neuregulin 1 called type 4 one of the six known types of Neuregulin 1 proteins in the brains of patients with schizophrenia.

The role of this protein in the brain is not completely understood but the other types of Neuregulin 1 proteins are involved in controlling how the brain develops and works in adults. In this study, Law and colleagues showed that Neuregulin 1 type 4 is specifically expressed in the
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American Society for Biochemistry and Molecular Biology
9-Aug-2007