Schizophrenia Daily News Blog

Neuregulin-1 gene variation confirmed as predisposing people to schizophrenia

A new report published this week in the Proceedings of the National Academy of Science (PNAS) confirmed what a large gene (Neuregulin-1) that regulates many brain functions is abnormal in people who have schizophrenia.

The study provides clues to how the gene seems to disrupt brain development and function and put people at risk for different types of thinking problems and brain disorders.

Newsday of New York reported that

"This is a very interesting study," said Dr. Gerald Fischbach, dean of the faculty of medicine at Columbia University, who added that this finding may one day lead to new ways to treat schizophrenia. Fischbach and his colleagues identified the gene in the early 1990s, and they suspected it had something to do with the nervous system. It's only been in the past three years that a team of scientists in Iceland, at deCode Genetics, has linked the gene to schizophrenia. Since then, more than a half dozen laboratories have confirmed the link.

Schizophrenia researchers believe that alterations in neuregulin-1 may change the biology of the gene and lead to an abnormal regulation of its expression and function in the schizophrenic brain, NIMH researcher Dr. Amanda Law stated.

The New York Times, reporting on the news story, noted:

Neuregulin is one of about 10 genes so far linked to schizophrenia. It plays many different roles in the brain, some concerned with synapses, the interconnections between neurons, so derangements of its function are a plausible source of schizophrenia. It is a long road, however, from knowing a variant gene is linked with a disease to understanding the biology of how the disease is caused.

The problem is particularly daunting with neuregulin. It is one of the largest genes in the human genome, sprawling over some 1,125,000 units of DNA, and it generates at least six types of protein through a procedure known as alternative splicing, in which different components of the gene are mixed and matched so that each set specifies a different protein.

Researchers are now working on a way to measure neuregulin in living patients and identify ways to predict who may become ill and why.

Dr. Kari Stefansson, president and chief operating officer of deCode, identified neuregulin-1 as a risk gene for schizophrenia. Stefansson has reasons to go after the disease. As a trained neurologist and neuropathologist, he has watched his older brother live with schizophrenia.

Sources:

Proceedings of the National Academy of Science - Neuregulin 1 transcripts are differentially expressed in schizophrenia and regulated by 5' SNPs associated with the disease

New York Times - Schizophrenia as Misstep by Giant Gene (free registration required)

NewsDay, New York - New Schizophrenia Clue