Abstract
Fragile X is a synapsopathy—a disorder of synaptic function and plasticity. Recent studies using mouse models of the disease suggest that the critical defect is altered regulation of synaptic protein synthesis. Various strategies to restore balanced synaptic protein synthesis have been remarkably successful in correcting widely varied mutant phenotypes in mice. Insights gained by the study of synaptic plasticity in animal models of fragile X have suggested novel therapeutic approaches, not only for human fragile X but also for autism and mental retardation of unknown etiology.
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This article summarizes research supported by grants from the NIMH, NICHD, NEI, FRAXA, and the Simons Foundation.
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Mark Bear has a financial interest in Seaside Therapeutics from which he has received personal compensation within the past 3 years. All other authors have no conflicts to disclose. Except as noted, no other financial support or compensation has been received from any individual or corporate entity over the past 3 years for research or professional service, and there are no personal financial holdings that could be perceived as constituting a potential conflict of interest.
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Bear, M., Dölen, G., Osterweil, E. et al. Fragile X: Translation in Action. Neuropsychopharmacol 33, 84–87 (2008). https://doi.org/10.1038/sj.npp.1301610
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DOI: https://doi.org/10.1038/sj.npp.1301610
