Article
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Nature communications - 9 Oct 2020
Wang Hui J, Lee Chang Seok, Yee Rachel Sue Zhen, Groom Linda, Friedman Inbar, Babcock Lyle, Georgiou Dimitra K, Hong Jin, Hanna Amy D, Recio Joseph, Choi Jong Min, Chang Ting, Agha Nadia H, Romero Jonathan, Sarkar Poonam, Voermans Nicol, Gaber M Waleed, Jung Sung Yun, Baker Matthew L, Pautler Robia G, Dirksen Robert T, Riazi Sheila, Hamilton Susan L
Abstract excerpt
Mutations in the skeletal muscle Ca2+ release channel, the type 1 ryanodine receptor (RYR1), cause malignant hyperthermia susceptibility (MHS) and a life-threatening sensitivity to heat, which is most severe in children. Mice with an MHS-associated mutation in Ryr1 (Y524S, YS) display lethal muscle contractures in response to heat. Here we show that the heat response in the YS mice is exacerbated by brown fat...
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