PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.

doi:10.1126/sciadv.ade7823

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Article

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.

Science advances - 9 Dec 2022

Ladraa Sophia, Zerbib Lola, Bayard Charles, Fraissenon Antoine, Venot Quitterie, Morin Gabriel, Garneau Alexandre P, Isnard Pierre, Chapelle Célia, Hoguin Clément, Fraitag Sylvie, Duong Jean-Paul, Guibaud Laurent, Besançon Alix, Kaltenbach Sophie, Villarese Patrick, Asnafi Vahid, Broissand Christine, Goudin Nicolas, Dussiot Michael, Nemazanyy Ivan, Viel Thomas, Autret Gwennhael, Cruciani-Guglielmacci Céline, Denom Jessica, Bruneau Julie, Tavitian Bertrand, Legendre Christophe, Dairou Julien, Lacorte Jean-Marc, Levy Pacifique, Pende Mario, Polak Michel, Canaud Guillaume

Abstract excerpt

PIK3CA-related overgrowth syndrome (PROS) is a genetic disorder caused by somatic mosaic gain-of-function mutations of PIK3CA. Clinical presentation of patients is diverse and associated with endocrine disruption. Adipose tissue is frequently involved, but its role in disease development and progression has not been elucidated. Here, we created a mouse model of PIK3CA-related adipose tissue overgrowth that...

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PMID: 36490341
DOI: 10.1126/sciadv.ade7823
PMCID: PMC9733923

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