Human induced pluripotent stem cells for studying mitochondrial diseases in the heart

FEBS Lett. 2022 Jul;596(14):1735-1745. doi: 10.1002/1873-3468.14444. Epub 2022 Jul 11.


Mitochondrial dysfunction is known to contribute to a range of diseases, and primary mitochondrial defects strongly impact high-energy organs such as the heart. Platforms for high-throughput and human-relevant assessment of mitochondrial diseases are currently lacking, hindering the development of targeted therapies. In the past decade, human-induced pluripotent stem cells (iPSCs) have become a promising technology for drug discovery in basic and clinical research. In particular, human iPSC-derived cardiomyocytes (iPSC-CMs) offer a unique tool to study a wide range of mitochondrial functions and possess the potential to become a key translational asset for mitochondrial drug development. This review summarizes mitochondrial functions and recent therapeutic discoveries, advancements and limitations of using iPSC-CMs to study mitochondrial diseases of the heart with an emphasis on cardiac applications.

Keywords: cardiomyocyte; cardiovascular disease; heart; iPSC; mitochondria; stem cell.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Differentiation
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mitochondria
  • Myocytes, Cardiac / metabolism