What Pathologies are Associated with Ryanodine Receptors?
Mutations or dysregulation of ryanodine receptors can lead to several muscle and cardiac diseases. For example, mutations in RyR1 are associated with malignant hyperthermia and central core disease, while mutations in RyR2 can cause catecholaminergic polymorphic ventricular tachycardia (CPVT) and other cardiac arrhythmias. These conditions underscore the importance of proper ryanodine receptor function.
