Key result
Patient-specific iPSC-derived cardiomyocytes with a MYBPC3 R326Q mutation exhibited early hypertrophic cardiomyopathy features, including abnormal calcium handling and increased intracellular calcium.
Why the study?
Hypertrophic cardiomyopathy lacks efficient therapy methods, and patient-specific iPSC-derived cardiomyocytes offer new opportunities to model the disease and study its pathogenesis.
Population
iPSCs from an HCM patient with a MYBPC3 R326Q mutation and a healthy control donor
Comparison
Patient-derived iPSC cardiomyocytes vs healthy donor control iPSC cardiomyocytes
Design
In vitro preclinical disease modeling study
Authors
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iPSC-CMs may model early HCM mechanisms; hypothesis-generating and leaves open clinical translation.
Patient-specific iPSC-derived cardiomyocytes can successfully model early features of hypertrophic cardiomyopathy, providing a platform for studying pathogenesis.
Dementyeva et al. (2019) studied Hypertrophic cardiomyopathy (n=1). Patient-specific induced pluripotent stem cells (iPSCs) vs. Control iPSCs from a healthy donor was evaluated on Early HCM features (abnormal calcium handling and increased intracellular calcium concentration). Patient-specific iPSC-derived cardiomyocytes with a MYBPC3 R326Q mutation exhibited early hypertrophic cardiomyopathy features, including abnormal calcium handling and increased intracellular calcium.
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