Researchers at University of Texas Southwestern Medical Center have made progress in unlocking the secrets behind the Fragile X syndrome, the most common cause of inherited mental retardation and the most common genetic cause of autism.
"I think we've discovered a core mechanism underlying Fragile X syndrome," said Dr. Kimberly Huber, assistant professor of neuroscience. Huber's research with mice focuses on how Fragile X syndrome affects communication between cells in the hippocampus, a region of the brain that is involved in learning and memory. Her findings show that two different chemical signals go awry in Fragile X syndrome, indicating that drugs that interact with these signals might be a pathway to help treat the syndrome.
Fragile X syndrome got its name because it affects a single gene, Fmr1, on the X chromosome. Under a microscope, the area around the gene looks narrower than normal, or fragile. It often causes a distinct physical appearance including an elongated face with protruding ears, hyperflexible joints, and mental deficits ranging from mood disorders to severe mental retardation. The syndrome affects about one in every 4,000 white males in the U.S.