Fragile X Syndrome is the most common inherited form of mental retardation, but few medications exist to help Fragile X patients. In a fruit fly model of the disease, researchers from the University of Pennsylvania School of Medicine and their colleagues have shown that it is possible to reverse some of the symptoms of the disorder using drugs that dampen specific neuronal overactivity. Their findings appeared in the March 3, 2005 issue of Neuron, and in Newsweek Magazine:

Genetics: A 'Striking' Fragile X Finding? Newsweek

Their work in flies indicates that antagonizing mGluR signaling may be a potential pharmacologic strategy.

With further funding from FRAXA, Sean McBride and colleagues are now performing biochemical studies to investigate the effects of these treatments on levels of relevant proteins, to fully understand how these drugs are having their effects. They will characterize the cognitive phenotypes in fragile X flies as they age. They will evaluate learning and memory of aged Drosophila to determine if prolonged treatments that restore memory in young adulthood continue to be effective in elderly flies. Already they have preliminary evidence of increased cognitive deficits in older fragile X flies and that these deficits can be prevented with drug treatments.

They are also investigating the effects of these treatments in FMR1 knockout mice, specifically studying the effects of mGluR antagonists, lithium, and other drugs, on the enhanced mGluR-dependent long-term depression phenotype in the fragile X mice.