Journal article
Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy
RCB Wong, SY Lim, SSC Hung, S Jackson, S Khan, NJ Van Bergen, E De Smit, HH Liang, LS Kearns, L Clarke, DA Mackey, AW Hewitt, IA Trounce, A Pébay
Aging | IMPACT JOURNALS LLC | Published : 2017
Abstract
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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Grants
Awarded by Australian Research Council
Funding Acknowledgements
This work was supported by grants from the National Health and Medical Research Council (NHMRC, RCBW, 1084256), the Australian Mitochondrial Disease Foundation (RCBW, AWH, IAT, AP), the Brockhoff foundation (IAT, AP) the University of Melbourne (RCBW, AP), and the Ophthalmic Research Institute of Australia (RCBW, NJVB, AP). AWH is supported by a NHMRC Practitioner Fellowship (APP1103329), AP by an Australian Research Council Future Fellowship (FT140100047) and a Peggy and Leslie Cranbourne Foundation Fellowship (RCBW) as well as a Medical Advances Without Animals Trust Fellowship. The Centre for Eye Research Australia receives operational infrastructure support from the Victorian Government.