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Neurodevelopmental disorders

Metformin — a therapeutic option for fragile X syndrome?

Nature Reviews Neurology volume 13, pages 384–385 (2017)Cite this article

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FXS is a neurodevelopmental disorder characterized by learning disabilities and cognitive impairment. The condition is caused by a CGG repeat expansion in the 5' untranslated region of the FMR1 gene, which results in hyperactivation of ERK (extracellular signal-regulated kinase) and mTORC1 (mechanistic target of rapamycin complex 1) signalling.

“Metformin suppresses translation by inhibiting the ERK pathway, so we reasoned that this drug could have beneficial therapeutic effects in Fmr1−/y mice, an animal model of FXS,” explains lead author Ilse Gantois. To test this hypothesis, the researchers administered daily doses of metformin or saline intraperitoneally to Fmr1−/y and wild-type mice for 10 days.

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References

  1. Gantois, I. et al. Metformin ameliorates core deficits in a mouse model of fragile X syndrome. Nat. Med. http://dx.doi.org/10.1038/nm.4335 (2017)

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Authors
  1. Heather Wood
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Wood, H. Metformin — a therapeutic option for fragile X syndrome?. Nat Rev Neurol 13, 384–385 (2017). https://doi.org/10.1038/nrneurol.2017.82

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  • DOI: https://doi.org/10.1038/nrneurol.2017.82

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