Fragile X Syndrome and Targeted Treatment Trials

Details

• Alternative Title:
  Results Probl Cell Differ
• Personal Author:
  Hagerman, Randi ; Lauterborn, Julie ; Au, Jacky ; Berry-Kravis, Elizabeth
• Description:
  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.
• Subjects:
  Animals Anti-Bacterial Agents Antioxidants Baclofen Brain-Derived Neurotrophic Factor Central Nervous System Stimulants Clinical Trials As Topic Dendritic Spines Donepezil Dopamine Enzyme Inhibitors Fragile X Mental Retardation Protein Fragile X Syndrome Humans Indans Lithium Compounds Melatonin Mice Mice, Knockout Minocycline Nootropic Agents Piperidines Receptor, Metabotropic Glutamate 5 Receptors, GABA Receptors, Metabotropic Glutamate Signal Transduction Vitamin E

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• Source:
  Results Probl Cell Differ. 2012; 54:297-335
• Pubmed ID:
  22009360
• Pubmed Central ID:
  PMC4114775
• Document Type:
  Journal Article
• Funding:
  90DD05969/DD/NCBDD CDC HHSUnited States/ ; UL1 DE019583/DE/NIDCR NIH HHSUnited States/ ; HD02274/HD/NICHD NIH HHSUnited States/ ; UL1RR024146/RR/NCRR NIH HHSUnited States/ ; MH082042/MH/NIMH NIH HHSUnited States/ ; AG032119/AG/NIA NIH HHSUnited States/ ; R01 MH082042/MH/NIMH NIH HHSUnited States/ ; RL1 AG032119/AG/NIA NIH HHSUnited States/ ; HD036071/HD/NICHD NIH HHSUnited States/ ; R01 HD036071/HD/NICHD NIH HHSUnited States/ ; AG032115/AG/NIA NIH HHSUnited States/ ; P30 HD002274/HD/NICHD NIH HHSUnited States/ ; DA024854/DA/NIDA NIH HHSUnited States/ ; TL1 DA024854/DA/NIDA NIH HHSUnited States/ ; UL1 RR024146/RR/NCRR NIH HHSUnited States/ ; RL1 AG032115/AG/NIA NIH HHSUnited States/ ; DE019583/DE/NIDCR NIH HHSUnited States/
• Volume:
  54
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:d675e910cc926751453e01075d9d4fc5348e2438a074f0227e80738b2156d8a9
• Download URL:
  https://stacks.cdc.gov/view/cdc/33707/cdc_33707_DS1.pdf
• File Type:
  [PDF - 152.73 KB ]