Brain Gene Mutation Linked to Schizophrenia

TUESDAY, Feb. 20 (HealthDay News) -- Mutations in genes that play a critical role in the function of a key brain enzyme may make people susceptible to schizophrenia, a team of American and Japanese scientists say.

Their genetic research in mice and humans led them to conclude that the PPP3CC gene and other genes in the early growth response (EGR) gene family (specifically, EGR3) likely play a role in schizophrenia.

These genes are crucial in the signaling pathway for the brain enzyme calcineurin. Disturbances affecting this enzyme result in schizophrenia symptoms such as disorganized thinking, memory and language problems, and attention deficits, the researchers said.

The findings provide possible targets for the development of new treatments for schizophrenia. The study is expected to be published online Feb. 20 in the journal Proceedings of the National Academy of Sciences.

About 51 million people worldwide have schizophrenia. While genes play a role in about 80 percent of schizophrenia cases, the specific genetic factors that influence a person's susceptibility and disease progression are largely unknown, according to the U.S. National Institute of Mental Health.

"This study provides genetic and biological evidence that PPP3CC and EGR3, both constituents of the calcineurin signaling pathway, may independently elicit increased risk for schizophrenia," study co-author Susumu Tonegawa, a professor of biology and neuroscience at the Massachusetts Institute of Technology, said in a prepared statement.