Archive for the 'Fragile X Syndrome' Category

Scientists at The Scripps Research Institute have discovered a new gene involved in fragile X syndrome, a condition that often shares many symptoms of autism. The discovery may lead to new tests or treatments for several neurological disorders.
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Scientists Have Discovered A New gene Involved In Fragile X Syndrome

Researchers in the Department of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine have identified a new regulatory target for the Fragile X mental retardation protein (FMRP), laying the groundwork for possible new treatments for Fragile X syndrome(FXS), the leading inherited form of mental retardation.

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Understanding Fragile X Mental Retardation Protein

The interplay of two proteins that bind to messenger RNA, a molecule that mediates translation of the information encoded in genes into proteins, triggers the appearance of fragile X-associated tremor/ataxia syndrome (FTAX), a late-life disorder associated with the gene that causes fragile X syndrome in children, said researchers from Baylor College of Medicine in Houston and Emory University School of Medicine in a report that appears August 15 in the journal Neuron.

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Proteins Involved In New Neurodegenerative Syndrome Identifed

Scientists have discovered how the gene mutation responsible for fragile X syndrome–the most common inherited form of mental retardation–alters the way brain cells communicate. In neurons cultured from laboratory rats, the scientists also were able to reverse the effects of the mutation using a drug targeted to the specific site in an upstream pathway of the defect. The finding could lead to the development of human therapies for this previously untreatable condition.

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Brain defect might be a target for the treatment of Fragile X Syndrome

An important finding has been made by McMaster researchers about Fragile X Syndrome (FXS), a sex-linked genetic disorder that affects approximately one in 4,000 males and one in 6,000 females. Continue Reading »
Stem cell research produces a key discovery for Fragile X Syndrome