Fragile X/FMRP Signaling Pathway Antibody Sampler Kit

Background

Fragile X syndrome, a frequent cause of inherited mental retardation, often results from expansion of the CGG trinucleotide repeat in the gene that encodes the fragile X mental retardation protein (FMRP, [1]). FMRP (also known as FMR1) and its two autosomal homologs (FXR1 and FXR2) all bind RNA and play a role in the pathogenesis of fragile X syndrome (1-3). Each of these related proteins can associate with one another as well as form homodimers and complexes with other RNA-binding proteins like cytoplasmic FMRP interacting protein 1 (CYFIP1, [3,4]). FMRP, FXR1, FXR2, and CYFIP1 have been implicated in the translational regulation of mRNAs (5,6). Importantly, this complex of proteins may be dynamically regulated to drive protein synthesis-dependent forms of synaptic plasticity in response to specific activity. That is, activation of metabotropic glutamate receptors, including mGluR1 and mGlur5, can regulate FMRP-dependent forms of translation via post-translational modification of eukaryotic elongation factor 2 (eEF2) to locally control dynamic translation of important synaptic proteins, which, subsequently, alter synaptic function (7-9).