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- W3183801785 startingPage "7730" @default.
- W3183801785 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." @default.
- W3183801785 created "2021-08-02" @default.
- W3183801785 creator A5014097347 @default.
- W3183801785 creator A5042782210 @default.
- W3183801785 creator A5047836141 @default.
- W3183801785 creator A5074383185 @default.
- W3183801785 creator A5082096236 @default.
- W3183801785 date "2021-07-20" @default.
- W3183801785 modified "2023-10-16" @default.
- W3183801785 title "Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?" @default.
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