Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies.

ABSTRACT: Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) are characterized by variable disease expression and age-related penetrance. Calcium (Ca²⁺) is crucially important for proper cardiac function, and dysregulation of Ca²⁺ homeostasis seems to underly cardiomyopathy etiology. A polymorphism, c.286T>G p.(Ser96Ala), in the gene encoding the histidine-rich Ca²⁺ binding (HRC) protein, relevant for sarcoplasmic reticulum Ca²⁺ cycling, has previously been associated with a marked increased risk of life-threatening arrhythmias among idiopathic DCM patients. Following this finding, we investigated whether p.(Ser96Ala) affects major cardiac disease manifestations in carriers of the phospholamban (PLN) c.40_42delAGA; p.(Arg14de

SUBMITTER: van der Voorn SM 

PROVIDER: S-EPMC10648441 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature