Small molecule compounds that may have therapeutic efficacy in Fragile X Syndrome and chemical genetic screens for potential drug targets.
Fragile X Syndrome (FXS), the most common heritable form of mental retardation, is caused by transcriptional misregulation of the FMR1 gene and a subsequent loss of function of the RNA binding protein, fragile X mental retardation protein (FMRP). FXS is also the leading known cause of autism.
Currently there is no effective drug therapy for FXS, and there have been no FMR1-based assays amenable to candidate drug screens. Dr. Stephen Warren and his colleagues discovered glutamate toxicity in a Drosophila model of FXS and from their discovery, they developed the first chemical genetic screen for FXS. Using the screen, the researchers identified nine small molecule compounds that significantly rescued multiple phenotypes in FMR1 mutant flies.