Journal article
Modelling mitochondrial disease in human pluripotent stem cells: What have we learned?
CL McKnight, YC Low, DA Elliott, DR Thorburn, AE Frazier
International Journal of Molecular Sciences | MDPI | Published : 2021
DOI: 10.3390/ijms22147730
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..
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Grants
Awarded by Royal Children's Hospital Foundation
Funding Acknowledgements
The authors acknowledge support from the Mito Foundation (C.L.M., Y.C.L., D.R.T., A.E.F.) and Australian National Health and Medical Research Council (NHMRC) (GNT1155244, 1107094, 1164479, 1113531; D.A.E., D.R.T.). D.A.E. receives support from The Kids Cancer Project, Stafford Fox Foundation and The Royal Children's Hospital Foundation. Supported by the Victorian Government's Operational Infrastructure Support Program and NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS).