Dr. Peter Todd, assistant professor in Neurology and co-director of the FX clinic at the University of Michigan thinks the study findings hold significant promise. “This is an interesting finding of a compound that has therapeutic potential in FXTAS. The approach taken by this group to identify small molecule inhibitors of CGG RNA toxicity is novel and potentially very powerful. In addition, the early studies of this compound in cells suggest that it has real biological effects.” However, Dr. Todd cautions that the compound still has a long ways to go before leading to a clinical trial in patients. “The critical next step is testing whether this compound is safe in animals and can correct defects in vivo in animal models of FXTAS,” a process that Dr. Todd and others are collaborating with Dr. Disney’s group to accomplish. “If these compounds correct behavioral and pathological abnormalities in FXTAS model mice without eliciting toxicity themselves, then I think there is reason for optimism.”
Scientists Design Molecule that Reverses Some Fragile X Syndrome Defects
(Phys.org)—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.