Fragile X: translation in action.
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.
Bear
Mark F
MF
Department of Brain and Cognitive Sciences, Howard Hughes Medical Institute, Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. mbear@mit.edu
Dölen
Gül
G
Osterweil
Emily
E
Nagarajan
Naveen
N
D000818:Animals; D004195:Disease Models, Animal; D005600:Fragile X Syndrome / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D009473:Neuronal Plasticity / Q000502:physiology*; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics / Q000378:metabolism; D013569:Synapses / Q000502:physiology*
D018094:Receptors, Metabotropic Glutamate