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 Liang; Lisa S Kearns; Linda Clarke; David A Mackey; Alex W Hewitt; Ian A. Trounce; Alice Pébay

doi:10.18632/aging.101231

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 Liang, Lisa S Kearns, Linda Clarke, David A Mackey, Alex W Hewitt, Ian A. Trounce, Alice Pébay

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Contribution to journal › Article › peer-review

49 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1341-1350
Number of pages	10
Journal	Aging
Volume	9
Issue number	4
DOIs	https://doi.org/10.18632/aging.101231
Publication status	Published - Apr 2017

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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.",

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AU - Hung, Sandy S C

AU - Jackson, Stacey

AU - Khan, Shahnaz

AU - Van Bergen, Nicole J

AU - De Smit, Elisabeth

AU - Liang, Helena

AU - Kearns, Lisa S

AU - Clarke, Linda

AU - Mackey, David A

AU - Hewitt, Alex W

AU - Trounce, Ian A.

AU - Pébay, Alice

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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.

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

Abstract

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