» Articles » PMID: 35659761

Modeling Hypertrophic Cardiomyopathy with Human Cardiomyocytes Derived from Induced Pluripotent Stem Cells

Overview
Publisher Biomed Central
Date 2022 Jun 6
PMID 35659761
Authors
Affiliations
Soon will be listed here.
Abstract

One of the obstacles in studying the pathogenesis of hypertrophic cardiomyopathy (HCM) is the poor availability of myocardial tissue samples at the early stages of disease development. This has been addressed by the advent of induced pluripotent stem cells (iPSCs), which allow us to differentiate patient-derived iPSCs into cardiomyocytes (iPSC-CMs) in vitro. In this review, we summarize different approaches to establishing iPSC models and the application of genome editing techniques in iPSC. Because iPSC-CMs cultured at the present stage are immature in structure and function, researchers have attempted several methods to mature iPSC-CMs, such as prolonged culture duration, and mechanical and electrical stimulation. Currently, many researchers have established iPSC-CM models of HCM and employed diverse methods for performing measurements of cellular morphology, contractility, electrophysiological property, calcium handling, mitochondrial function, and metabolism. Here, we review published results in humans to date within the growing field of iPSC-CM models of HCM. Although there is no unified consensus, preliminary results suggest that this approach to modeling disease would provide important insights into our understanding of HCM pathogenesis and facilitate drug development and safety testing.

Citing Articles

Advancements in techniques for human iPSC-derived cardiomyocytes maturation: mechanical and electrical stimulation approaches.

Lu Y, Liu Y, Yan Y, Fooladi S, Qyang Y Biophys Rev. 2025; 17(1):169-183.

PMID: 40060015 PMC: 11885779. DOI: 10.1007/s12551-024-01267-6.


A Machine Learning Approach to Gene Expression in Hypertrophic Cardiomyopathy.

Pavic J, Zivanovic M, Tanaskovic I, Pavic O, Stankovic V, Virijevic K Pharmaceuticals (Basel). 2024; 17(10).

PMID: 39459004 PMC: 11510441. DOI: 10.3390/ph17101364.


Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy.

Jager J, Ribeiro M, Furtado M, Carvalho T, Syrris P, Lopes L Stem Cell Res. 2024; 81:103582.

PMID: 39447317 PMC: 11649531. DOI: 10.1016/j.scr.2024.103582.


CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation.

Dutton L, Dudhia J, Guest D, Connolly D PLoS One. 2024; 19(10):e0311761.

PMID: 39388496 PMC: 11466433. DOI: 10.1371/journal.pone.0311761.


Metabolic remodeling and calcium handling abnormality in induced pluripotent stem cell-derived cardiomyocytes in dilated phase of hypertrophic cardiomyopathy with MYBPC3 frameshift mutation.

Mori H, Xu D, Shimoda Y, Yuan Z, Murakata Y, Xi B Sci Rep. 2024; 14(1):15422.

PMID: 38965264 PMC: 11224225. DOI: 10.1038/s41598-024-62530-0.


References
1.
Correia C, Koshkin A, Duarte P, Hu D, Teixeira A, Domian I . Distinct carbon sources affect structural and functional maturation of cardiomyocytes derived from human pluripotent stem cells. Sci Rep. 2017; 7(1):8590. PMC: 5561128. DOI: 10.1038/s41598-017-08713-4. View

2.
Ho C, Day S, Colan S, Russell M, Towbin J, Sherrid M . The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study. JAMA Cardiol. 2017; 2(4):419-428. PMC: 5541992. DOI: 10.1001/jamacardio.2016.5670. View

3.
Okita K, Ichisaka T, Yamanaka S . Generation of germline-competent induced pluripotent stem cells. Nature. 2007; 448(7151):313-7. DOI: 10.1038/nature05934. View

4.
Li W, Ding S . Small molecules that modulate embryonic stem cell fate and somatic cell reprogramming. Trends Pharmacol Sci. 2009; 31(1):36-45. DOI: 10.1016/j.tips.2009.10.002. View

5.
Gherghiceanu M, Barad L, Novak A, Reiter I, Itskovitz-Eldor J, Binah O . Cardiomyocytes derived from human embryonic and induced pluripotent stem cells: comparative ultrastructure. J Cell Mol Med. 2011; 15(11):2539-51. PMC: 3822963. DOI: 10.1111/j.1582-4934.2011.01417.x. View