Home > D. Systemic pathology > RYR1-associated malignant hyperthermia
RYR1-associated malignant hyperthermia
Tuesday 5 August 2008
RYR1 gene codes for ryanodine receptor (MIM.180901).
Mutations of the RYR1 gene on chromosome 19q, encoding for ryanodine receptor type 1, account for the majority of cases. This receptor is a skeletal muscle calcium channel located in the sarcoplasmic reticulum, responsible for the release of calcium in the sarcoplasmic reticulum, allowing muscle contraction.
Mutation of this channel then leads to an abnormal sustained increase in myoplasmic calcium concentration in skeletal muscle, with the resulting potential for developing malignant hyperthermia.
