The Pathophysiology of Fragile X (and What It Teaches Us about Synapses)
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Bear_The pathophysiology.pdf
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Author(s)
Bhakar, Asha
Dolen, Gul
Bear, Mark
Date Issued
April 2012
Journal
Annual Review of Neuroscience
Publisher
Annual Reviews
Citation
Bhakar, Asha L., Gül Dölen, and Mark F. Bear. “The Pathophysiology of Fragile X (and What It Teaches Us About Synapses).” Annual Review of Neuroscience 35, no. 1 (July 21, 2012): 417–443.
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Author's final manuscript
Abstract
Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.
MIT Department
Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences
Picower Institute for Learning and Memory
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Creative Commons Attribution-Noncommercial-Share Alike
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DOI of Published Version
https://doi.org/10.1146/annurev-neuro-060909-153138
