Scientists are eyeing a rare genetic glitch for clues to improved treatments for some people with schizophrenia even though they found the mutation in only one third of 1 percent of patients.
In the study, funded in part by the National Institutes of Health, schizophrenia patients were 14 times more likely than controls to harbor multiple copies of a gene on Chromosome 7. The mutations were in the gene for VIPR2, the receptor for vasoactive intestinal peptide (VIP) a chemical messenger known to play a role in brain development. An examination of patients' blood confirmed that they had overactive VIP activity.
Discovery of the same genetic abnormality in even a small group of patients buoys hopes for progress in a field humbled by daunting complexity in recent years. The researchers' previous studies had suggested that the brain disorder that affects about 1 percent of adults might, in many cases, be rooted in different genetic causes in each affected individual, complicating prospects for cures.
"Genetic testing for duplications of the VIP receptor could enable early detection of a subtype of patients with schizophrenia, and the receptor could also potentially become a target for development of new treatments," explained Jonathan Sebat, Ph.D., of the University of California, San Diego, who led the research team. "The growing number of such rare duplications and deletions found in schizophrenia suggests that what we have been calling a single disorder may turn out, in part, to be a constellation of multiple rare diseases."
Sebat, a grantee of the NIH's National Institute of Mental Health and colleagues at 14 research centers world-wide report on their findings Feb. 23, 2011, in the journal Nature.
"Although such copy number variations may explain only a small fraction of cases, these rare mutations can yield important clues to the underlying causes of more common forms," noted NIMH Director Thom
|Contact: Jules Asher|
NIH/National Institute of Mental Health