Cardiac Myosin-Binding Protein C in Cardiovascular Disease.

Abstract

Cardiac myosin-binding protein C (cMyBPC) is an important sarcomeric regulatory protein that plays a key role in myocardial contraction and relaxation. Through its interactions with thick and thin filament proteins, cMyBPC helps regulate cross-bridge cycling and contributes significantly to overall cardiac performance. Alterations in its expression, structure, or phosphorylation state have been associated with several forms of cardiovascular disease. Pathogenic variants in the MYBPC3 gene represent one of the most common genetic causes of hypertrophic cardiomyopathy (HCM). These mutations have been implicated in the disruption of normal sarcomeric function, altered contractility, and subsequent ventricular remodeling. Although significant progress has been made in understanding the relationship between MYBPC3 mutations and HCM, the mechanisms by which individual variants lead to specific clinical phenotypes remain incompletely understood. Beyond its role in sarcomeric regulation, cMyBPC has emerged as a potential biomarker of myocardial injury. Studies have demonstrated that fragments of the protein are released into the circulation following ischemic damage, raising interest in its potential use as an adjunctive marker for the early detection of acute myocardial infarction. This review provides an overview of the molecular biology and physiologic functions of cMyBPC and examines its role in HCM, myocardial injury, and other forms of cardiovascular disease.