Scientists at last may have determined how mental retardation develops in people with fragile X syndrome, a condition caused by the inherited loss of an essential protein, termed the fragile X mental retardation protein (FMRP). The new research demonstrates that FMRP controls the fate of several specific proteins in brain cells and thus may explain why the absence of this single protein can cause the range of physical, cognitive and behavioral abnormalities characteristic of fragile X syndrome.
While these findings may not lead to a cure for fragile X syndrome, they do offer the potential for future therapies that would lessen the impact of the disease.
"This work represents a new understanding of mental retardation," says Robert B. Darnell, M.D., Ph.D., a principal investigator of the current research and a professor at The Rockefeller University. "Our findings suggest entirely new ways of thinking about treating the problems these patients have."
Katie Clapp, president of the FRAXA Research Foundation, which largely funded Darnell's work, and mother of two children with fragile X says, "For the first time, scientists can explain why these children experience certain symptoms. This kind of knowledge is very reassuring to the families of children with the disorder."
The latest research, reported in two papers appearing in the Nov. 16 issue of Cell, was conducted by scientists at The Rockefeller University in collaboration with researchers from the Emory University School of Medicine. One study was initiated by Darnell, head of the Laboratory of Molecular Neuro-Oncology at Rockefeller, and the other by Stephen T. Warren, Ph.D., an investigator at Emory University School of Medicine and Howard Hughes Medical Institute.
Fragile X syndrome, the second leading cause of mental retardation after
Down syndrome and the most common cause of inherited mental retardation,
Contact: Whitney Clavin