Key result
MYH7 mutations drive burst-like transcription, allelic imbalance, and increased contractile variability in hiPSC-CMs.
Why the study?
It was unknown whether allelic and contractile imbalance are present early in HCM development or occur in response to disease-associated remodeling.
Population
Patient-specific hiPSC-derived cardiomyocytes with heterozygous MYH7 mutations R723G and G741R and WT-hiPSC-CMs
Comparison
HCM-hiPSC-CMs with heterozygous MYH7 mutations vs WT-hiPSC-CMs
Design
In vitro cellular study
Authors
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Burst-like allelic transcription may drive contractile heterogeneity in HCM; hypothesis-generating and should not yet change practice.
Weber et al. (2024) studied Hypertrophic Cardiomyopathy. Heterozygous MYH7-mutations R723G and G741R vs. WT-hiPSC-CMs was evaluated on Allelic and contractile imbalance. Patient-specific hiPSC-CMs with MYH7 mutations exhibited burst-like transcription, allelic imbalance, and significantly larger variability in force generation compared to wildtype cells.
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