Why the study?
Truncation mutations in cMyBP-C cause HCM, with heterozygous carriers presenting with classical HCM and homozygous carriers with early-onset HCM rapidly progressing to heart failure.
Does cMyBP-C haploinsufficiency or ablation alter contractile function and Ca2+-handling in human engineered cardiac tissue?
Population
Human iPSC-derived cardiomyocytes and engineered cardiac tissue constructs
Comparison
Heterozygous (cMyBP-C+/-) and homozygous (cMyBP-C-/-) frame-shift mutations vs isogenic controls
Design
In vitro gene-editing experimental study
Follow-up
6 wk in ECT culture
Authors
Loading...
ECT models of cMyBP-C deficiency warrant cautious interpretation; leaves open in vivo relevance and clinical translation.
Does cMyBP-C haploinsufficiency or ablation alter contractile function and Ca2+-handling in human engineered cardiac tissue?
cMyBP-C haploinsufficiency and ablation in human engineered cardiac tissue cause a progressive phenotype characterized by early hypercontractility that transitions to hypocontractility and impaired relaxation mediated by Ca2+ handling abnormalities.
Lange et al. (2023) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: