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Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart.
Curr Issues Mol Biol
November 2024
School of Systems Biology, George Mason University, Fairfax, VA 22030, USA.
Mutations in the ryanodine receptor (RyR2) gene have been linked to arrhythmia and possibly sudden cardiac death (SCD) during acute emotional stress, physical activities, or catecholamine perfusion. The most prevalent disorder is catecholaminergic polymorphic ventricular tachycardia (CPVT1). Four primary mechanisms have been proposed to describe CPVT1 with a RyR2 mutation: (a) gain-of-function, (b) destabilization of binding proteins, (c) store-overload-induced Ca release (SOICR), and (d) loss of function.
View Article and Find Full Text PDFNeutrophil PPIF exacerbates lung ischemia-reperfusion injury after lung transplantation by promoting calcium overload-induced neutrophil extracellular traps formation.
Int Immunopharmacol
December 2024
Department of Anesthesiology, Qilu Hospital of Shandong University, Jinan, China. Electronic address:
Lung ischemia-reperfusion (I/R) injury is the main risk factor for primary graft dysfunction and patient death after lung transplantation (LTx). It is widely accepted that the main pathological mechanism of lung I/R injury are calcium overload, oxygen free radical explosion and neutrophil-mediated damage, which leading to the lack of effective treatment options. The aim of this study was to further explore the mechanisms of lung I/R injury after LTx and to provide potential therapeutic strategies.
View Article and Find Full Text PDFCase report: high-dose carvedilol as a potential key drug for arrhythmias in histiocytoid cardiomyopathy.
Eur Heart J Case Rep
December 2023
Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center Hospital, 6-1 Kishibeshimmachi, Suita, 5648565 Osaka, Japan.
Background: Histiocytoid cardiomyopathy is a rare infancy cardiac disorder manifesting as severe cardiac arrhythmias or dilated cardiomyopathy. There is no specific treatment for these arrhythmias. This is the first report of infantile histiocytoid cardiomyopathy whose refractory ventricular arrhythmias were successfully controlled by high-dose carvedilol.
View Article and Find Full Text PDFRyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
Biochem J
September 2023
Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta T2N 4N1, Canada.
Gain-of-function missense variants in the cardiac ryanodine receptor (RyR2) are linked to catecholaminergic polymorphic ventricular tachycardia (CPVT), whereas RyR2 loss-of-function missense variants cause Ca2+ release deficiency syndrome (CRDS). Recently, truncating variants in RyR2 have also been associated with ventricular arrhythmias (VAs) and sudden cardiac death. However, there are limited insights into the potential clinical relevance and in vitro functional impact of RyR2 truncating variants.
View Article and Find Full Text PDFIncreased Ca Transient Underlies RyR2-Related Left Ventricular Noncompaction.
Circ Res
July 2023
Department of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Alberta, Canada (M.N., Y.L., J.W., Z.S., H.W., J.Y., Y.-X.C., D.B., J.P.E., R.W., S.R.W.C.).
Background: A loss-of-function cardiac ryanodine receptor (RyR2) mutation, I4855M, has recently been linked to a new cardiac disorder termed RyR2 Ca release deficiency syndrome (CRDS) as well as left ventricular noncompaction (LVNC). The mechanism by which RyR2 loss-of-function causes CRDS has been extensively studied, but the mechanism underlying RyR2 loss-of-function-associated LVNC is unknown. Here, we determined the impact of a CRDS-LVNC-associated RyR2-I4855M loss-of-function mutation on cardiac structure and function.
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