Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0151744 (myocardial ischemia)
 31,282 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a malignant arrhythmia syndrome linked to mutations in the cardiac ryanodine receptor (RyR2) and calsequestrin (CASQ2). RyR2 and CASQ2 are parts of the multimolecular Ca(2+) release channel complex that is present on the sarcoplasmic reticulum (SR) to support myocyte Ca(2+) cycling and contractile activity. Whereas RyR2 operates as a Ca(2+) release channel, the SR Ca(2+) binding protein CASQ2 plays a dual role by serving as a SR Ca(2+) buffer and by regulating RyR2 function. Essential to stable Ca(2+) cycling, SR luminal Ca(2+)-dependent control of RyR2 activity by CASQ2 contributes to RyR2 deactivation and to the development of a temporary refractory state that occurs after each Ca(2+) release. Accumulating evidence suggests that the CPVT mutations act by reducing the extent and shortening the duration of Ca(2+) signaling refractoriness, thereby promoting untimely SR Ca(2+) release and arrhythmogenic delayed afterdepolarizations in cardiac myocytes. Similar mechanisms may apply to arrhythmias during various conditions, including heart failure and ischemic heart disease, associated with acquired defects in components of the Ca(2+) release channel complex.
 ...
PMID:Molecular basis of catecholaminergic polymorphic ventricular tachycardia. 1912 13