New Gene Mutations Tied to Schizophrenia

MONDAY Oct. 8, 2012 -- Dozens of newly discovered genetic mutations that play a significant role in the development of schizophrenia add to the list of genetic variants linked to the disease, new research suggests.

Schizophrenia typically appears in people during their teens or early adulthood, but many of these newly identified mutations are most active during fetal development, according to researchers from Columbia University Medical Center in New York City.

They said their findings show that both the function of the mutated gene and the timing of when the gene is expressed seems to have a major effect on the risk of developing schizophrenia.

The genetic errors pinpointed in this study are spontaneous, or "de novo" mutations, which means they are present in patients but not in their parents. This supports studies showing that environmental factors, such as malnutrition or infections during pregnancy, can contribute to the development of schizophrenia, the researchers said.

"Our findings provide a mechanism that could explain how prenatal environmental insults during the first and second trimester of pregnancy increase one's risk for schizophrenia," study leader Dr. Maria Karayiorgou, professor of psychiatry and acting chief of psychiatric and medical genetics at the New York State Psychiatric Institute, said in a Columbia news release.

"Patients with these mutations were much more likely to have had behavioral abnormalities, such as phobias and anxiety in childhood, as well as worse disease outcome," she noted.

For the study, the researchers conducted genetic analyses of 231 patient trios from the United States and South Africa. Each trio consisted of a schizophrenia patient and both of his or her parents, who did not have the illness.

The study was published online Oct. 3 in the journal Nature Genetics.

More information

The U.S. National Institute of Mental Health has more about schizophrenia.

Posted: October 2012


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