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MH RYR1 Gene Mutation — FRCA Primary MCQ

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HardPharmacology - General PrinciplesMH RYR1 Gene MutationFRCA Primary

Regarding malignant hyperthermia the genetic mutation most commonly involves which gene?

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Correct answer: A — RYR1 gene (ryanodine receptor type 1)

MH is most commonly caused by mutations in the RYR1 gene (chromosome 19q) encoding the skeletal muscle ryanodine receptor (type 1 calcium release channel on the sarcoplasmic reticulum). Approximately 70% of MH families have RYR1 mutations. Less commonly CACNA1S mutations (L-type calcium channel alpha-1 subunit / chromosome 1q) are responsible (~1%). Inheritance is autosomal dominant with variable penetrance.

Reference: Peck Hill Williams 2014 Pharmacology for Anaesthesia and Intensive Care