Fragile X Syndrome Corrected in Mice

This is "wonderful" support for the therapeutic use of drugs known as mGluR5 antagonists in the treatment of fragile X syndrome, Hagerman said.

"Although there was good evidence for this treatment in the trial of mGluR5 antagonists in the knockout mouse [lacking FMRP] and other animal models of fragile X, this genetic evidence further supports treatment trials and suggests that earlier use of these agents may be very beneficial, since the genetic model corrects this problem throughout development," Hagerman said.

"We are initiating mGluR5 antagonist trials in humans now, and we are excited to see the benefit in adults with fragile X," Hagerman said. "This work is ushering in a new age of targeted treatments for fragile X syndrome."

Another expert agreed.

"Needless to say, we are very excited about this publication, which has actually been in the works for a long time," said Dr. Michael Tranfaglia, the medical director of the FRAXA Research Foundation, which is focused on fragile X. "The genetic rescue of most of the major features of fragile X syndrome by decreasing the expression of mGluR5 is an elegant and powerful demonstration of the 'mGluR5' theory.'"

In this case, the breakthrough finding has led to the conclusion that fragile X syndrome is primarily the result of excessive activity in a single cellular receptor pathway, Tranfaglia said.

Drugs are currently in development that can block this receptor, Tranfaglia said. "We believe these drugs have enormous potential for the treatment of fragile X and related developmental disorders, including many cases of autism," he said.

More information

For more about fragile X syndrome, visit the Fragile X Research Foundation.

SOURCES: Mark F. Bear, Ph.D., director, Picower Institute, and Picower professor of neuroscience, MIT, Cambridge, Mass.; Michael Tranfaglia, M.D., medical director, FRAXA Research Foundation, Newburyport, Mass; Randi Hagerman, M.D., professor, pediatrics, and medical director, M.I.N.D. Institute, University of California, Davis; Dec. 20, 2007, Neuron

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