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Lab Reports
June 6, 2012

Reversing Fragile X

JAMA. 2012;307(21):2247. doi:10.1001/jama.2012.5440

Inhibiting a cell signaling pathway that can become overactive in fragile X syndrome (FXS), the most common form of inherited intellectual disability, corrects numerous aspects of the disease in adult mice (Michalon A et al. Neuron. 2012;74[1]:49-56).

Individuals with FXS have a single mutation in the FMR1 gene that prevents them from producing enough of the fragile X mental retardation protein. This leads to overactivation of a cell signaling pathway involving the metabotropic glutamate receptor 5 (mGlu5).