Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia

This study aimed to evaluate whether the three ryanodine receptor type 1 (RYR1) variants (p.Ser2345Thr, p.Ser2345Arg, and p.Lys3367Arg) which we identified in Japanese malignant hyperthermia (MH) patients with a clinical grading scale rank of 6 were causative for MH. We prepared human embryonic kidn...

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Published in:Journal of anesthesia 2020-10, Vol.34 (5), p.658-665
Main Authors: Noda, Yuko, Yasuda, Toshimichi, Kanzaki, Rieko, Miyoshi, Hirotsugu, Mukaida, Keiko, Kamiya, Satoshi, Morio, Atsushi, Hamada, Hiroshi, Kawamoto, Masashi, Tsutsumi, Yasuo M
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Language:English
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Summary:This study aimed to evaluate whether the three ryanodine receptor type 1 (RYR1) variants (p.Ser2345Thr, p.Ser2345Arg, and p.Lys3367Arg) which we identified in Japanese malignant hyperthermia (MH) patients with a clinical grading scale rank of 6 were causative for MH. We prepared human embryonic kidney (HEK)-293 cells transfected with wild-type RYR1 or one of the RYR1 variants, along with myotubes cultured from muscle pieces. Calcium kinetics were examined by calculating the 340/380-nm ratio under various caffeine and 4-chloro-m-cresol (4CmC) concentrations with the ratiometric dye Fura-2 AM. Half-maximal effective concentration (EC ) values were calculated from dose-response curves. Statistical analysis was based on one-way analysis of variance with a Dunnett's multiple comparison test, using a P value 
ISSN:1438-8359
DOI:10.1007/s00540-020-02803-w