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Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

McKnight, Cameron L., Low, Yau Chung, Elliott, David A., Thorburn, David R., Frazier, Ann E.·2021·International Journal of Molecular Sciences
DOI 10.3390/ijms22147730PMC PMC8306397
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Abstract

Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are both clinically and genetically heterogeneous, and can be highly tissue specific, but most often affect cell types with high energy demands in the brain, heart, and kidneys. There are currently no clinically validated treatment options available, despite several agents showing therapeutic promise. However, modelling these disorders is challenging as many non-human models of mitochondrial disease do not completely recapitulate human phenotypes for known disease genes. Additionally, access to disease-relevant cell or tissue types from patients is often limited. To overcome these difficulties, many groups have turned to human pluripotent stem cells (hPSCs) to model mitochondrial disease for both nuclear-DNA (nDNA) and mitochondrial-DNA (mtDNA) contexts. Leveraging the capacity of hPSCs to differentiate into clinically relevant cell types, these models permit both detailed investigation of cellular pathomechanisms and validation of promising treatment options. Here we catalogue hPSC models of mitochondrial disease that have been generated to date, summarise approaches and key outcomes of phenotypic profiling using these models, and discuss key criteria to guide future investigations using hPSC models of mitochondrial disease.

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  • Recent advances in generating induced pluripotent stem cells (iPSCs) from primary cells of affected patients have led to the creation of model cell lines with specific mtDNA mutations.

    “Recent advances in generating induced pluripotent stem cells (iPSCs) from primary cells of affected patients has also led to the creation of model cell lines with specific mtDNA mutations [160,161,162].”

    From The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics (2022) · cites this paper as [162]

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Metadata

Authors
McKnight, C. L., Low, Y. C., Elliott, D. A., Thorburn, D. R., & Frazier, A. E.
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2021-07-20
Volume
22
Issue
14
Pages
7730
ISSN
1422-0067
DOI
10.3390/ijms22147730
PMC
PMC8306397
Cited by
27
References
11
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)

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