Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy

Raymond C.B. Wong; Shiang Y. Lim; Sandy S.C. Hung; Stacey Jackson; Shahnaz Khan; Nicole J. Van Bergen; Elisabeth De Smit; Helena H. Liang; Lisa S Kearns; Linda Clarke; David A. Mackey; Alex W. Hewitt; Ian A. Trounce; Alice Pébay

doi:doi:10.18632/aging.101231

Research Paper Volume 9, Issue 4 pp 1341—1350

Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy

Raymond C.B. Wong^1,2,, Shiang Y. Lim^3,, Sandy S.C. Hung^1,2,, Stacey Jackson^1,2,, Shahnaz Khan^1,2,, Nicole J. Van Bergen^1,2,, Elisabeth De Smit^1,2,, Helena H. Liang^1,2,, Lisa S Kearns^1,2,, Linda Clarke^1,2,, David A. Mackey^4,5,, Alex W. Hewitt^1,2,5,, Ian A. Trounce^1,2,6,, Alice Pébay^1,2,6,,

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
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Wong RC, Lim SY, Hung SS, Jackson S, Khan S, Van Bergen NJ, De Smit E, Liang HH, Kearns LS, Clarke L, Mackey DA, Hewitt AW, Trounce IA, et al, . Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy. Aging (Albany NY). 2017; 9:1341-1350. https://doi.org/10.18632/aging.101231

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Provider: 
        TY  - JOUR
        AU  - Wong, Raymond C.B. 
        AU  - Lim, Shiang Y. 
        AU  - Hung, Sandy S.C. 
        AU  - Jackson, Stacey 
        AU  - Khan, Shahnaz 
        AU  - Van Bergen, Nicole J. 
        AU  - De Smit, Elisabeth 
        AU  - Liang, Helena H. 
        AU  - Kearns, Lisa S 
        AU  - Clarke, Linda 
        AU  - Mackey, David A. 
        AU  - Hewitt, Alex W. 
        AU  - Trounce, Ian A. 
        AU  - Pébay, Alice 
        TI  - Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy
        JO  - 
        JA  - Aging (Albany NY)
        VL  - 9
        IS  - 4
        PB  - 
        SN  - 
        UR  - https://doi.org/10.18632/aging.101231
        DO  - 10.18632/aging.101231
        SP  - 1341
        EP  - 1350
        PY  - 
        AB  - 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.
        ER  -

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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.

Abbreviations

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.

Research Paper Volume 9, Issue 4 pp 1341—1350

Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy

Received: March 25, 2017 Accepted: April 23, 2017 Published: April 29, 2017

Abstract

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