Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond

Neuropsychopharmacology. 2012 Jan;37(1):178-95. doi: 10.1038/npp.2011.137. Epub 2011 Jul 27.

Abstract

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

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / drug therapy
  • Child Development Disorders, Pervasive / metabolism
  • Child Development Disorders, Pervasive / physiopathology
  • Fragile X Syndrome / drug therapy*
  • Fragile X Syndrome / metabolism*
  • Fragile X Syndrome / physiopathology
  • Humans
  • Psychotropic Drugs / therapeutic use*
  • Receptors, Metabotropic Glutamate / antagonists & inhibitors*
  • Receptors, Metabotropic Glutamate / physiology
  • Signal Transduction / drug effects
  • Signal Transduction / physiology*

Substances

  • Psychotropic Drugs
  • Receptors, Metabotropic Glutamate