PIK3CA Gain-Of-Function Mutation In Schwann Cells Leads To Severe Neuropathy And Aerobic Glycolysis Through A Non-Cell Autonomous Effect

    June 2025 in “ Proceedings of the National Academy of Sciences ”
    Quitterie Venot, Marina Firpion, Sophia Ladraa, Charles Bayard, Sato Magassa, Roberta Di Guardo, Antoine Fraissenon, Clément Hoguin, Sanela Protic, G Morin, Franck Mayeux, Geneviève Gourdon, Sylvie Fraïtag, Estelle Balducci, Sophie Kaltenbach, Patrick Villarèse, Vahid Asnafi, Thomas Viel, Gwennhaël Autret, Bertrand Tavitian, Nicolas Goudin, Laurent Guibaud, Alessandra Bolino, Guillaume Canaud
    Studysummary In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.
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