» Articles » PMID: 34681080

Disease Modeling of Mitochondrial Cardiomyopathy Using Patient-Specific Induced Pluripotent Stem Cells

Overview
Journal Biology (Basel)
Publisher MDPI
Specialty Biology
Date 2021 Oct 23
PMID 34681080
Citations 3
Authors
Affiliations
Soon will be listed here.
Abstract

Mitochondrial cardiomyopathy (MCM) is characterized as an oxidative phosphorylation disorder of the heart. More than 100 genetic variants in nuclear or mitochondrial DNA have been associated with MCM. However, the underlying molecular mechanisms linking genetic variants to MCM are not fully understood due to the lack of appropriate cellular and animal models. Patient-specific induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) provide an attractive experimental platform for modeling cardiovascular diseases and predicting drug efficacy to such diseases. Here we introduce the pathological and therapeutic studies of MCM using iPSC-CMs and discuss the questions and latest strategies for research using iPSC-CMs.

Citing Articles

Case report: Rare novel compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant.

Wang L, Lu P, Yin J, Xu K, Xiang D, Zhang Z Front Cardiovasc Med. 2023; 9:1095882.

PMID: 36727025 PMC: 9884671. DOI: 10.3389/fcvm.2022.1095882.


Sarcomere maturation: function acquisition, molecular mechanism, and interplay with other organelles.

Ahmed R, Tokuyama T, Anzai T, Chanthra N, Uosaki H Philos Trans R Soc Lond B Biol Sci. 2022; 377(1864):20210325.

PMID: 36189811 PMC: 9527934. DOI: 10.1098/rstb.2021.0325.


Stem Cell Studies in Cardiovascular Biology and Medicine: A Possible Key Role of Macrophages.

Kawaguchi N, Nakanishi T Biology (Basel). 2022; 11(1).

PMID: 35053119 PMC: 8773242. DOI: 10.3390/biology11010122.

References
1.
Arrowsmith J, Miller P . Trial watch: phase II and phase III attrition rates 2011-2012. Nat Rev Drug Discov. 2013; 12(8):569. DOI: 10.1038/nrd4090. View

2.
Uosaki H, Cahan P, Lee D, Wang S, Miyamoto M, Fernandez L . Transcriptional Landscape of Cardiomyocyte Maturation. Cell Rep. 2015; 13(8):1705-16. PMC: 4662925. DOI: 10.1016/j.celrep.2015.10.032. View

3.
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

4.
Veerman C, Mengarelli I, Lodder E, Kosmidis G, Bellin M, Zhang M . Switch From Fetal to Adult Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation. J Am Heart Assoc. 2017; 6(7). PMC: 5586268. DOI: 10.1161/JAHA.116.005135. View

5.
Kirby D, Crawford M, Cleary M, Dahl H, Dennett X, Thorburn D . Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology. 1999; 52(6):1255-64. DOI: 10.1212/wnl.52.6.1255. View