What is the Role of the Ryanodine Receptor in Disease?

Mutations in the RyR can lead to several pathological conditions. For instance, mutations in RyR1 are linked to malignant hyperthermia and central core disease, which affect skeletal muscle function. Mutations in RyR2 are associated with cardiac arrhythmias such as catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular cardiomyopathy (ARVC). These conditions highlight the importance of RyR in maintaining normal muscle and cardiac function.