Research Summary: National Fragile X Foundation – Conquer Fragile X Basic Science Grant

Christina Gross PhD – $30,000

Emory University School of Medicine

Signal transmission in the brains of FXS patients is severely impaired. This can lead to neuronal and mental dysfunctions as well as epilepsy and autistic-like behavior. During my previous two years of research funded by the NFXF, I discovered, in experiments with mice (the “mouse model for FXS”), that activity of a key component in the transmission of nerve signals is “dysregulated” (deficient). My results suggest that the Fragile X Mental Retardation Protein (FMRP) regulates the synthesis and the activity of specific signaling molecule(s) at nerve synapses, thereby putting the brakes on this signaling pathway. In FXS, when FMRP is not expressed, the activity of specific proteins may be exaggerated. We therefore suggest that restraining (scientific term: “antagonizing”) function of specific signaling factors might be a valuable strategy to treat FXS. I plan to test this hypothesis over the next year using pharmacologic and genetic methods in a mouse model for FXS. We will use biochemical, cell biological and behavioral assays to investigate whether these manipulations can reverse FXS-associated phenotypes. I hope that the results of this research

Results

New Clue Found for Fragile X Syndrome-Epilepsy Link