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Updated: Jul 11, 2025
Model of Ischemic Heart Disease and Video-Based Comparison of Cardiomyocyte Contraction Using hiPSC-Derived Cardiomyocytes
Published on: May 5, 2020
Advances in Hypertrophic Cardiomyopathy Disease Modelling Using hiPSC-Derived Cardiomyocytes
Saif Dababneh1, Homa Hamledari2, Yasaman Maaref2
1Cellular and Regenerative Medicine Centre, BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada; Department of Cellular and Physiological Sciences, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Insights
Human induced pluripotent stem cells (hiPSCs) are revolutionizing disease modeling. hiPSC-derived cardiomyocytes (hiPSC-CMs) offer a powerful tool for understanding hypertrophic cardiomyopathy (HCM) molecular mechanisms and genetic variant impacts.
Area of Science:
- Cardiovascular Research
- Stem Cell Biology
- Genetics
Background:
- Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition and a leading cause of sudden cardiac death.
- HCM is frequently caused by genetic variants in sarcomeric proteins, affecting cellular mechanical, electrical, signaling, and transcriptional functions.
- Understanding these molecular alterations is crucial for predicting HCM progression and developing effective treatments.
Purpose of the Study:
- To review the molecular basis of HCM.
- To highlight the utility of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) in modeling HCM.
- To summarize advancements in hiPSC-CM-based HCM research, focusing on maturation, contractility, multiomics, and genome editing.
Main Methods:
- Leveraging hiPSC-CMs to model HCM.
- Investigating the molecular consequences of genetic variants in a controlled in vitro setting.
- Reviewing existing literature on hiPSC-CM applications in HCM research.
Main Results:
- hiPSC-CMs provide a unique platform for dissecting the molecular mechanisms of HCM.
- Studies using hiPSC-CMs have advanced the understanding of genotype-phenotype relationships in HCM.
- Progress has been made in hiPSC-CM maturation, contractility assessment, multiomics, and genome editing for HCM modeling.
Conclusions:
- hiPSC-CMs are a transformative tool for modeling inherited cardiovascular diseases like HCM.
- This approach facilitates a deeper understanding of molecular underpinnings and potential therapeutic targets for HCM.
- Future research directions include further refinement of hiPSC-CM models for comprehensive disease analysis.
Abstract:
The advent of human induced pluripotent stem cells (hiPSCs) and their capacity to be differentiated into beating human cardiomyocytes (CMs) in vitro has revolutionized human disease modelling, genotype-phenotype predictions, and therapeutic testing. Hypertrophic cardiomyopathy (HCM) is a common inherited cardiomyopathy and the leading known cause of sudden cardiac arrest in young adults and athletes. On a molecular level, HCM is often driven by single pathogenic genetic variants, usually in sarcomeric proteins, that can alter the mechanical, electrical, signalling, and transcriptional properties of the cell. A deeper knowledge of these alterations is critical to better understanding HCM manifestation, progression, and treatment. Leveraging hiPSC-CMs to investigate the molecular mechanisms driving HCM presents a unique opportunity to dissect the consequences of genetic variants in a sophisticated and controlled manner. In this review, we summarize the molecular underpinnings of HCM and the role of hiPSC-CM studies in advancing our understanding, and we highlight the advances in hiPSC-CM-based modelling of HCM, including maturation, contractility, multiomics, and genome editing, with the notable exception of electrophysiology, which has been previously covered.
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