Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.

Takashi KondoToshimichi YasudaKeiko MukaidaSachiko OtsukiRieko KanzakiHirotsugu MiyoshiHiroshi HamadaIchizo NishinoMasashi Kawamoto

Published in: Journal of anesthesia (2018)

Our results of functional testing indicated RYR1 hypersensitivity to caffeine and 4CmC. We conclude that the genetic variant was associated with MH susceptibility.

Keyphrases

genome wide
copy number
tyrosine kinase
gene expression
drug induced
dna methylation