Researchers Discover New Genetic Clues In Fragile-X Syndrome

Researchers at the Washington University School of Medicine in St. Louis have discovered new genetic clues related to fragile X ndrome--the most common cause of inherited intellectual ability.

Patients with fragile X hold a key gene that is completely disabled, eliminating protein that regulates electrical signals in the brain and resulting in a host of behavioral, neurological and physical issues.

Researchers studied one patient who, in contrast, had only a single error in the gene that exhibited two classic traits of fragile X, including intellectual disability and seizure.

"This individual case has allowed us to separate two independent functions of the fragile X protein in the brain," said co-senior author Vitaly A. Klyachko, PhD, associate professor of cell biology and physiology at the university, in a news release. "By finding the mutation, even in just one patient, and linking it to a partial set of traits, we have identified a distinct function that this gene is responsible for and that is likely impaired in all people with fragile X."

Up until now, when researchers studied the subject, they typically looked for problems with cells in the brain receiving the proper signals. Now they're focusing on problems with overly sensitive receivers that allow in too much information in the brain. The new information further suggests that fragile X is also what causes overactive transmitters to send out too much information.

More information regarding the findings can be seen via the Proceedings of the National Academy of Sciences (PNAS).

For more great nature science stories and general news, please visit our sister site, Headlines and Global News (HNGN).