Gene Mutation Greatly Increases Schizophrenia Risk

Scientists have identified a gene mutation that increases a person's risk of developing schizophrenia by more than 10 times, according to a new study.

The mutation affects a gene that regulates learning and behavior, which makes sense considering these cognitive abilities are often impaired in people with schizophrenia, said study researcher Jonathan Sebat, an assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego.

Still, the finding was unexpected in that this gene was "certainly not on anybody's top 10 list," Sebat told MyHealthNewsDaily.

Sebat and his colleagues looked for gene mutations in the genomes of 8,290 people with schizophrenia and 7,431 healthy people. They found several mutations that seemed to be associated with schizophrenia.

People who had one particular mutation, in a gene called the VIPR2, which regulates brain neuron development and activity, were 14 times more likely to have schizophrenia than people without the mutation, the study said.

Blood samples from people in the study showed that the people with the mutation had greater expression and greater activity of the gene than people without the mutations, the study said.

Past research on genes related to schizophrenia have focused on brain chemicals such as dopamine and glutamate . For example, a 2010 study in the journal Biological Psychiatry showed that the interaction of these two chemicals may lead to the development of psychotic disorders such as schizophrenia.

But the new study shows that genes for neuropeptides a group of neurotransmitters separate from the groups containing dopamine and glutamate are also an important piece of the puzzle, because they regulate processes such as gene expression and blood flow, Sebat said.

The discovery has implications for both diagnosis and treatment of the 2.4 million people in the United States with schizophrenia. A genetic test for the mutations could help to identify people at risk for schizophrenia , or those who would most likely benefit from treatment, Sebat said.

And future anti-psychosis drugs could target the gene with the mutation and reduce its activity, he said. Future drugs could either be taken as a pill or a nasal spray.

The study will be published online Feb. 3 in the journal Nature.

Pass it on: A mutation on a gene that regulates brain development is associated with a 14-fold increased risk of schizophrenia.

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Amanda Chan
Amanda Chan was a staff writer for Live Science Health. She holds a bachelor's degree in journalism and mass communication from the Walter Cronkite School of Journalism and Mass Communication at Arizona State University, and a master's degree in journalism from Columbia University.