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Abstract
Fragile X syndrome is the most common inherited form of cognitive deficiency in humans
and perhaps the best-understood single cause of autism. A trinucleotide repeat expansion,
inactivating the X-linked FMR1 gene, leads to the absence of the fragile X mental
retardation protein. FMRP is a selective RNA-binding protein that regulates the local
translation of a subset of mRNAs at synapses in response to activation of Gp1 metabotropic
glutamate receptors (mGluRs) and possibly other receptors. In the absence of FMRP,
excess and dysregulated mRNA translation leads to altered synaptic function and loss
of protein synthesis-dependent plasticity. Recent evidence indicates the role of FMRP
in regulated mRNA transport in dendrites. New studies also suggest a possible local
function of FMRP in axons that may be important for guidance, synaptic development,
and formation of neural circuits. The understanding of FMRP function at synapses has
led to rationale therapeutic approaches.