Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human <i>MYBPC3</i> HCM.

ABSTRACT:

Background

The pathogenesis of MYBPC3-associated hypertrophic cardiomyopathy (HCM) is still unresolved. In our HCM patient cohort, a large and well-characterized population carrying the MYBPC3:c772G>A variant (p.Glu258Lys, E258K) provides the unique opportunity to study the basic mechanisms of MYBPC3-HCM with a comprehensive translational approach.

Methods

We collected clinical and genetic data from 93 HCM patients carrying the MYBPC3:c772G>A variant. Functional perturbations were investigated using different biophysical techniques in left ventricular samples from 4 patients who underwent myectomy for refractory outflow obstruction, compared with samples from non-failing non-hypertrophic surgical patients and healthy donors. Human induced pluripot

SUBMITTER: Pioner JM 

PROVIDER: S-EPMC9977265 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature