Journal
AGING-US
Volume 9, Issue 4, Pages 1341-1350Publisher
IMPACT JOURNALS LLC
DOI: 10.18632/aging.101231
Keywords
Leber's hereditary optic neuropathy; disease model; induced pluripotent stem cells; retinal ganglion cells; cybrid
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Funding
- National Health and Medical Research Council (NHMRC) [1084256]
- Australian Mitochondrial Disease Foundation
- Brockhoff foundation
- University of Melbourne
- Ophthalmic Research Institute of Australia
- NHMRC Practitioner Fellowship [APP1103329]
- Australian Research Council Future Fellowship [FT140100047]
- Peggy and Leslie Cranbourne Foundation Fellowship
- Medical Advances Without Animals Trust Fellowship
- Victorian Government
- National Health and Medical Research Council of Australia [1084256] Funding Source: NHMRC
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Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.
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