Fragile X syndrome affecting brain cells

Researchers at UT Southwestern Medical Center are uncovering how brain cells are affected in 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 and senior author of a study appearing in Wednesday’s edition of the Journal of Neuroscience.

Dr. 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.

“The more we know about how signaling mechanisms in the brain lead to normal memory and learning, the better we can understand what goes wrong in conditions such as Fragile X syndrome,” said Dr. Huber, who is a Southwestern Medical Foundation Scholar in Medical Research. “Our research is laying the groundwork for such understanding and indicates a new area for research.”

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.” According to the Centers for Disease Control and Prevention, the syndrome, which mostly occurs in males, affects about one in every 4,000 white males in the U.S.

The current study was supported by the National Institutes of Health and FRAXA Research Foundation.

Source: University of Texas Southwestern Medical Center, USA



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