Ryanodine receptor
Pronunciation: RY-ah-no-deen receptor
Intracellular calcium release channel in muscle. Mutations cause specific myopathies and malignant hyperthermia susceptibility requiring careful anesthetic management.
Full Definition
The ryanodine receptor is a large calcium release channel located in the sarcoplasmic reticulum of skeletal and cardiac muscle, playing a crucial role in excitation-contraction coupling. In skeletal muscle, the type 1 ryanodine receptor (RyR1) is the predominant isoform. Mutations in the RYR1 gene cause various congenital myopathies including central core disease, multiminicore disease, and centronuclear myopathy. Additionally, RyR1 mutations are associated with malignant hyperthermia susceptibility, a potentially fatal anesthetic complication. Patients with ryanodine receptor disorders require specialized perioperative management and should carry medical alert identification.
Usage
Usage note: Always note malignant hyperthermia risk implications. Coordinate with anesthesiology for surgical patients.
In Context
- "Genetic testing confirmed a pathogenic ryanodine receptor mutation associated with central core disease and malignant hyperthermia risk." — Genetic counseling report
- "The patient's family history of anesthetic complications prompted ryanodine receptor genetic analysis before elective surgery." — Preoperative assessment