In fragile X syndrome (FXS), which causes autism and intellectual disability, silencing of the fragile X mental retardation protein 1 gene is thought to lead to excessive synaptic mRNA translation. Using a mouse model of FXS, the authors showed that reduction in the expression of S6K1 (ribosomal protein S6 kinase-β1) — a protein that initiates translation — decreased the excessive phosphorylation of translation control molecules and enhanced protein synthesis that are seen in these animals. It also prevented anatomical and behavioural phenotypes that are found in this mouse model, suggesting a possible therapeutic approach for FXS.
ORIGINAL RESEARCH PAPER
Bhattacharya, A. et al. Genetic removal of p70 S6 kinase 1 corrects molecular, synaptic, and behavioral phenotypes in fragile X syndrome mice. Neuron 76, 325–337 (2012)
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Jones, R. Tackling fragile X by curbing translation. Nat Rev Neurosci 13, 812 (2012). https://doi.org/10.1038/nrn3388
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DOI: https://doi.org/10.1038/nrn3388