<i>MYBPC3</i> D389V Variant Induces Hypercontractility in Cardiac Organoids.

ABSTRACT: MYBPC3, encoding cardiac myosin binding protein-C (cMyBP-C), is the most mutated gene known to cause hypertrophic cardiomyopathy (HCM). However, since little is known about the underlying etiology, additional in vitro studies are crucial to defining the underlying molecular mechanisms. Accordingly, this study aimed to investigate the molecular mechanisms underlying the pathogenesis of HCM associated with a polymorphic variant (D389V) in MYBPC3 by using isogenic human-induced pluripotent stem cell (hiPSC)-derived cardiac organoids (hCOs). The hiPSC-derived cardiomyocytes (hiPSC-CMs) and hCOs were generated from human subjects to define the molecular, cellular, functional, and energetic changes caused by the MYBPC3^D389V variant, which is associated with increa

SUBMITTER: Desai D 

PROVIDER: S-EPMC11592734 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature