Published online Oct 26, 2019. doi: 10.4330/wjc.v11.i10.221
Peer-review started: March 12, 2019
First decision: June 13, 2019
Revised: June 17, 2019
Accepted: September 22, 2019
Article in press: September 22, 2019
Published online: October 26, 2019
Processing time: 229 Days and 17.4 Hours
The genetic cardiomyopathies are a group of disorders related by abnormal myocardial structure and function. Although individually rare, these diseases collectively represent a significant health burden since they usually develop early in life and are a major cause of morbidity and mortality amongst affected children. The heterogeneity and rarity of these disorders requires the use of an appropriate model system in order to characterize the mechanism of disease and develop useful therapeutics since standard drug trials are infeasible. A common approach to study human disease involves the use of animal models, especially rodents, but due to important biological and physiological differences, this model system may not recapitulate human disease. An alternative approach for studying the metabolic cardiomyopathies relies on the use of cellular models which have most frequently been immortalized cell lines or patient-derived fibroblasts. However, the recent introduction of induced pluripotent stem cells (iPSCs), which have the ability to differentiate into any cell type in the body, is of great interest and has the potential to revolutionize the study of rare diseases. In this paper we review the advantages and disadvantages of each model system by comparing their utility for the study of mitochondrial cardiomyopathy with a particular focus on the use of iPSCs in cardiovascular biology for the modeling of rare genetic or metabolic diseases.
Core tip: Several experimental model systems exist for the modeling of cardiomyopathies, including those caused by rare metabolic or mitochondrial diseases. We compare and contrast the cellular models that have been used to date to model several different mitochondrial disorders with a particular focus on the advantages and disadvantages of induced pluripotent stem cells.