Fragile X Makes Brain Cells Talk to Much

Fragile X Makes Brain Cells Talk Too Much

Feb. 20, 2013 — The most common inherited form of mental retardation and autism, fragile X syndrome, turns some brain cells into chatterboxes, scientists at Washington University School of Medicine in St. Louis report.

The extra talk may make it harder for brain cells to identify and attend to important signals, potentially establishing an intriguing parallel at the cellular level to the attention problems seen in autism.

According to the researchers, understanding the effects of this altered signaling will be important to developing successful treatments for fragile X and autism.

"We don't know precisely how information is encoded in the brain, but we presume that some signals are important and some are noise," says senior author Vitaly Klyachko, PhD, assistant professor of cell biology and physiology. "Our theoretical model suggests that the changes we detected may make it much more difficult for brain cells to distinguish the important signals from the noise." ....


 
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Most Common Form of Inherited Intellectual Disability May Be Treatable, Review Suggests

ScienceDaily (May 17, 2011) — "Advancements over the last 10 years in understanding intellectual disability (ID) have led to the once-unimaginable possibility that ID may be treatable, a review of more than 100 studies on the topic has concluded.
It appears in ACS Chemical Neuroscience.
Aileen Healy and colleagues explain that people long have viewed intellectual disability as permanent and untreatable, with medical care focusing on relieving some of the symptoms rather than correcting the underlying causes. That includes Fragile X syndrome (FXS), the most common inherited form of intellectual disability. FXS occurs in an array of forms, ranging from mild learning disabilities to more severe intellectual and developmental disabilities. It is the most common known cause of autism or autistic-like behaviors.
Scientists are now beginning to get a handle on the changes that happen to cells and molecules in the body because of a mutation in the Fragile X Mental Retardation 1 gene. That gene contains instructions for making a key protein vital for nerve function in the brain, and does not work properly in FXS. With a better understanding of the biological effects of the mutation, the scientists say that treatments for FXS and similar disorders now seem possible. In addition, several drugs tested in humans seem promising."
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First Drug to Treat Fragile X?

ScienceDaily (Jan. 9, 2011) — "The first drug to treat the underlying disorder instead of the symptoms of Fragile X, the most common cause of inherited intellectual disability, shows some promise, according to a new study published in the January issue of Science Translational Medicine. Researchers from Rush University Medical Center helped design the study and are now participating in the larger follow-up clinical trial.The data from the early trial of 30 Fragile X patients, found the drug, called AFQ056, made by Novartis Pharmaceuticals, helped improve symptoms in some patients. Patients who had the best response have a kind of "fingerprint" in their DNA that could act as a marker to determine who should get treatment.
"This is an exciting development. It is the first time we have a treatment targeted to the underlying disorder, as opposed to supportive treatment of the behavioral symptoms, in a developmental brain disorder causing intellectual disability. This drug could be a model for treatment of other disorders such as autism," said pediatric neurologist Dr. Elizabeth Berry-Kravis, a study author and director of the Fragile X Clinic and Research Program and the Fragile X-Associated Disorders Program at Rush."
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