PerspectiveBiomedicine

Do G Quartets Orchestrate Fragile X Pathology?

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Science  21 Dec 2001:
Vol. 294, Issue 5551, pp. 2487-2488
DOI: 10.1126/science.1068352

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Summary

Fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that result in loss of the FMRP protein. As Moine and Mandel explain in their Perspective, FMRP has now been found to bind to G-quartet structures in target mRNAs (many of which encode important neuronal proteins) and, in some cases, to prevent their translation. Absence of FMRP in fragile X patients causes dysregulation of the translation of specific mRNAs, leading to neuronal abnormalities.