Research Paper Volume 9, Issue 4 pp 1341—1350
Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy
- 1 Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
- 2 Department of Surgery, Ophthalmology, the University of Melbourne, Melbourne, Australia
- 3 O’Brien Institute Department, St Vincent’s Institute of Medical Research, Victoria, Australia
- 4 Centre for Ophthalmology and Vision Science, University of Western Australia, Lions Eye Institute, Nedlands, Australia
- 5 School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia
- 6 Co-senior authors
received: March 25, 2017 ; accepted: April 23, 2017 ; published: April 29, 2017 ;https://doi.org/10.18632/aging.101231
How to Cite
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.
Cybrid: cyb; induced pluripotent stem cells: iPSCs; Leber hereditary optic neuropathy: LHON; Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes: MELAS; mitochondrial: mt; retinal ganglion cells: RGCs.