Very Important Pharmacogene: RYR1

The new Very Important Pharmacogene (VIP) Summary of RYR1 describes important pharmacogenetic associations as well as disease associations with variants in RYR1. RYR1 encodes a single sub-unit of the ryanodine receptor isoform 1 (RYR1), the predominant ryanodine receptor isoform of skeletal muscle. RYR1 is a calcium channel of the sarcoplasmic reticulum of muscle cells (and endoplasmic reticulum in non-muscle cells) and is critical to excitation-contraction coupling, the process by which an electrical signal is translated into a muscle contraction. RYR1 is the primary locus for malignant hyperthermia susceptibility (MHS), a potentially fatal pharmacogenetic condition triggered by volatile anesthetics, alone or in combination with a depolarizing neuromuscular blocking agent, such as succinylcholine. There is limited evidence that variants in RYR1 may also be associated with statin-induced myopathies. The VIP summary also discusses how advances in sequencing have improved MHS diagnoses in otherwise healthy individuals. Read the VIP summary below:

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