A new animal study published on March 31 in the online edition of Nature, an international science journal, shows a genetic variant, 22q11 deletion, could lead to schizophrenia because of its role in breaking down brain communications.
Researchers at New York's Columbia University Medical Center found in a mouse model communication breakdowns between two areas of the brain (hippocampus and prefrontal cortex) related to working memory caused by 22q11 deletion, a microdeletion on human chromosome.
Maria Karayiorgou, MD, psychiatry researcher at Columbia and coauthor of the study, celebrates the 15th anniversary of her initial discovery linking schizophrenia and 22q11 deletion with a new findings on the neurobiology of 22q11 deletion. Dr. Karayiorgou explained, "We know that this genetic deficit predisposes us to schizophrenia, and now we have identified a clear pathophysiological mechanism of how this deletion confers this risk for schizophrenia."
Joshua Gordon, MD, PhD, assistant professor at Columbia University Medical Center, psychiatrist and neuroscientist at New York State Psychiatric Institute and senior author of the study, added this about the team's findings, "it unequivocally establishes a deficit in that communication in a way that the early studies could not - not only because we can isolate the genetics of the disease, but we can also measure the connectivity between these structures directly."
"We now know that one of the consequences of that deletion is to disrupt functional communication between these two brain regions, and we have evidence from the study that the disruption actually has an impact on a cognitive behavior that is disrupted in patients, so it gives us a really strong indication of how the deletion can contribute to the development of schizophrenia. It is possible that similar abnormalities in functional connectivity may also account for other symptoms of the disease, and can be used to better assess treatment response, and, most importantly, to develop new medications," said Joseph A. Gogos, MD, PhD, associate professor at Columbia University Center for Neurobiology and Behavior and senior author of the study.
Full study, " Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia": http://www.nature.com