Mar 31, 2008

Mutations and Schizophrenia

A new U.S. study reveals that there is a relation between certain genetic variations and brain tissue mutations, and schizophrenia. Scientists at Cold Spring Harbor Laboratory in collaboration with colleagues at the University of Washington and the National Institute of Mental Health found that deletions, disruptions and duplications of normal genes were three to four times more frequent in people with schizophrenia. The findings of this study were published in the journal 'Science'.

Schizophrenia, a debilitating psychiatric trouble, affects around 1% of the world’s population. The people with schizophrenia suffer from hallucinations, delusions, and unsystematic thinking, and are at risk for strange or odd behaviors. The disease deeply affects communal and work-related functioning and has massive public health costs.

Researchers analyzed a variety of blood samples from 158 schizophrenia patients, plus 268 people that do not have any psychiatric problem. Researchers used a high-resolution gene scanning technique, to study unusual mutations. The group saw 53 different mutation instances, and they found that multiple, individually rare mutations took place over thrice frequently among persons with schizophrenia.

"This part of our findings indicates something we didn't know before: that rare structural mutations in genes, while present in both healthy people and people with schizophrenia, are much more likely to occur among people with the illness," said senior author Jonathan Sebat of Cold Spring Harbor. "This suggests a previously unknown role for rare mutations in the causation of schizophrenia."


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