Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

摘要: Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function the fragile mental retardation protein (FMRP). In absence FMRP, signaling through group 1 metabotropic glutamate receptors elevated and insensitive to stimulation, which may underlie many neurological neuropsychiatric features FXS. Treatment FXS animal models with negative allosteric modulators these preliminary clinical trials in human patients support hypothesis that receptor a valuable therapeutic target However, recent research has also shown FMRP regulate diverse aspects neuronal downstream several cell surface receptors, suggesting possible new route more direct disease-targeted therapies. Here, we summarize promising advances basic identifying testing novel strategies models, evaluate their potential benefits. We provide overview ongoing motivated some findings, discuss challenges for both science applications continued development effective mechanism-targeted therapies