Document Detail

The state of synapses in fragile X syndrome.
MedLine Citation:
PMID:  19325170     Owner:  NLM     Status:  MEDLINE    
Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading genetic cause of autism. There is increasing evidence in both FXS and other forms of autism that alterations in synapse number, structure, and function are associated and contribute to these prevalent diseases. FXS is caused by loss of function of the Fmr1 gene, which encodes the RNA binding protein, fragile X mental retardation protein (FMRP). Therefore, FXS is a tractable model to understand synaptic dysfunction in cognitive disorders. FMRP is present at synapses where it associates with mRNA and polyribosomes. Accumulating evidence finds roles for FMRP in synapse development, elimination, and plasticity. Here, the authors review the synaptic changes observed in FXS and try to relate these changes to what is known about the molecular function of FMRP. Recent advances in the understanding of the molecular and synaptic function of FMRP, as well as the consequences of its loss, have led to the development of novel therapeutic strategies for FXS.
Brad E Pfeiffer; Kimberly M Huber
Publication Detail:
Type:  Journal Article; Review     Date:  2009-03-26
Journal Detail:
Title:  The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry     Volume:  15     ISSN:  1089-4098     ISO Abbreviation:  Neuroscientist     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-10-14     Completed Date:  2010-01-26     Revised Date:  2014-09-20    
Medline Journal Info:
Nlm Unique ID:  9504819     Medline TA:  Neuroscientist     Country:  United States    
Other Details:
Languages:  eng     Pagination:  549-67     Citation Subset:  IM    
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MeSH Terms
Brain / metabolism*,  pathology,  physiopathology
Fragile X Mental Retardation Protein / genetics,  metabolism*
Fragile X Syndrome / genetics,  metabolism*,  physiopathology
Intellectual Disability / genetics,  metabolism*,  physiopathology
Nerve Tissue Proteins / metabolism
Neuronal Plasticity / genetics
Protein Transport / genetics
RNA, Messenger / metabolism
Receptors, Metabotropic Glutamate / metabolism
Synapses / genetics,  metabolism*,  pathology
Grant Support
F31 NS050992-03/NS/NINDS NIH HHS; R01 HD052731/HD/NICHD NIH HHS; R01 HD052731-01A2/HD/NICHD NIH HHS; R01 NS045711/NS/NINDS NIH HHS; R01 NS045711-06/NS/NINDS NIH HHS
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/Receptors, Metabotropic Glutamate; 139135-51-6/Fragile X Mental Retardation Protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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