Scientists Design Molecule That Reverses Some Fragile X Syndrome Defects

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[Source:  Science Daily]

Scientists on the Florida campus of The Scripps Research Institute have designed a compound that shows promise as a potential therapy for one of the diseases closely linked to fragile X syndrome, a genetic condition that causes mental retardation, infertility, and memory impairment, and is the only known single-gene cause of autism.

The study, published online ahead of print in the journal ACS Chemical Biology September 4, 2012, focuses on tremor ataxia syndrome, which usually affects men over the age of 50 and results in Parkinson’s like-symptoms — trembling, balance problems, muscle rigidity, as well as some neurological difficulties, including short-term memory loss and severe mood swings.

With fragile X syndrome, tremor ataxia syndrome, and related diseases, the root of the problem is a structural motif known as an “expanded triplet repeat” — in which a series of three nucleotides are repeated more times than normal in the genetic code of affected individuals. This defect, located in the fragile X mental retardation 1 (FMR1) gene, causes serious problems with the processing of RNA.

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