Fragile X syndrome: from gene discovery to therapy

Front Biosci (Landmark Ed). 2011 Jan 1;16:1211-32. doi: 10.2741/3785.


A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and biochemical pathways shown to be relevant in the fragile X syndrome and how these insights have led to a first series of clinical trials in fragile X patients.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Antipsychotic Agents / therapeutic use
  • Disease Models, Animal
  • Drosophila melanogaster
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Mental Retardation Protein / metabolism
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / therapy
  • Humans
  • Hypothalamo-Hypophyseal System / physiology
  • Mice
  • Pituitary-Adrenal System / physiology
  • Receptors, GABA-A / drug effects
  • Receptors, GABA-A / physiology
  • Receptors, Metabotropic Glutamate / drug effects
  • Receptors, Metabotropic Glutamate / physiology
  • Zebrafish
  • rho GTP-Binding Proteins / physiology


  • Antipsychotic Agents
  • Receptors, GABA-A
  • Receptors, Metabotropic Glutamate
  • Fragile X Mental Retardation Protein
  • rho GTP-Binding Proteins