1932

Abstract

Fragile X syndrome is one of the most common forms of inherited mental retardation. In most cases the disease is caused by the methylation-induced transcriptional silencing of the () gene that occurs as a result of the expansion of a CGG repeat in the gene's 5′UTR and leads to the loss of protein product fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein that associates with translating polyribosomes as part of a large messenger ribonucleoprotein (mRNP) and modulates the translation of its RNA ligands. Pathological studies from the brains of patients and from knockout mice show abnormal dendritic spines implicating FMRP in synapse formation and function. Evidence from both in vitro and in vivo neuronal studies indicates that FMRP is located at the synapse and the loss of FMRP alters synaptic plasticity. As synaptic plasticity has been implicated in learning and memory, analysis of synapse abnormalities in patients and knockout mice should prove useful in studying the pathogenesis of fragile X syndrome and understanding learning and cognition in general.

() .

      ()

Loading

Article metrics loading...

/content/journals/10.1146/annurev.neuro.25.112701.142909
2002-03-01
2024-04-21
Loading full text...

Full text loading...

/content/journals/10.1146/annurev.neuro.25.112701.142909
Loading
/content/journals/10.1146/annurev.neuro.25.112701.142909
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error