Modeling Fragile X Syndrome

Volume 54 of the series Results and Problems in Cell Differentiation pp 297-335


Fragile X Syndrome and Targeted Treatment Trials

  • Randi HagermanAffiliated withDepartment of Pediatrics, University of California at Davis Medical Center Email author 
  • , Julie LauterbornAffiliated withDepartment of Anatomy & Neurobiology, University of California at Irvine
  • , Jacky AuAffiliated withDepartment of Pediatrics, University of California at Davis Medical Center
  • , Elizabeth Berry-KravisAffiliated withDepartments of Pediatrics, Neurology, and Biochemistry, Rush University Medical Center

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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.