Fragile X syndrome and targeted treatment trials

Randi J Hagerman, Julie Lauterborn, Jacky Au, Elizabeth Berry-Kravis

Research output: Chapter in Book/Report/Conference proceedingChapter

76 Scopus citations

Abstract

Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overexpression of a number of its target genes, which can cause imbalances of neurotransmission and deficits in synaptic plasticity. The use of metabotropic glutamate receptor (mGluR) blockers and gamma amino-butyric acid (GABA) agonists have been shown to be efficacious in reversing cellular and behavioral phenotypes, and restoring proper brain connectivity in the mouse and fly models. Proposed new pharmacological treatments and educational interventions are discussed in this chapter. In combination, these various targeted treatments show promising preliminary results in mitigating or even reversing the neurobiological abnormalities caused by loss of FMRP, with possible translational applications to other neurodevelopmental disorders including autism.

Original languageEnglish (US)
Title of host publicationResults and Problems in Cell Differentiation
Pages297-335
Number of pages39
Volume54
DOIs
StatePublished - 2012

Publication series

NameResults and Problems in Cell Differentiation
Volume54
ISSN (Print)00801844
ISSN (Electronic)18610412

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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    Hagerman, R. J., Lauterborn, J., Au, J., & Berry-Kravis, E. (2012). Fragile X syndrome and targeted treatment trials. In Results and Problems in Cell Differentiation (Vol. 54, pp. 297-335). (Results and Problems in Cell Differentiation; Vol. 54). https://doi.org/10.1007/978-3-642-21649-7_17