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

Research output: Contribution to journalArticle

15 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 languageEnglish
Pages (from-to)1341-1350
Number of pages10
JournalAging
Volume9
Issue number4
DOIs
Publication statusPublished - Apr 2017

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Leber's Hereditary Optic Atrophy
Induced Pluripotent Stem Cells
Mitochondrial DNA
Mutation
Retinal Ganglion Cells
Cell Differentiation
Cell Death
Fibroblasts
Technology

Cite this

Wong, R. C. B., Lim, S. Y., Hung, S. S. C., Jackson, S., Khan, S., Van Bergen, N. J., ... Pébay, A. (2017). Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. Aging, 9(4), 1341-1350. https://doi.org/10.18632/aging.101231
Wong, Raymond C B ; Lim, Shiang Y ; Hung, Sandy S C ; Jackson, Stacey ; Khan, Shahnaz ; Van Bergen, Nicole J ; De Smit, Elisabeth ; Liang, Helena ; Kearns, Lisa S ; Clarke, Linda ; Mackey, David A ; Hewitt, Alex W ; Trounce, Ian A. ; Pébay, Alice. / Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. In: Aging. 2017 ; Vol. 9, No. 4. pp. 1341-1350.
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Wong, RCB, Lim, SY, Hung, SSC, Jackson, S, Khan, S, Van Bergen, NJ, De Smit, E, Liang, H, Kearns, LS, Clarke, L, Mackey, DA, Hewitt, AW, Trounce, IA & Pébay, A 2017, 'Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy' Aging, vol. 9, no. 4, pp. 1341-1350. https://doi.org/10.18632/aging.101231

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. / Wong, Raymond C B; Lim, Shiang Y; Hung, Sandy S C; Jackson, Stacey; Khan, Shahnaz; Van Bergen, Nicole J; De Smit, Elisabeth; Liang, Helena; Kearns, Lisa S; Clarke, Linda; Mackey, David A; Hewitt, Alex W; Trounce, Ian A.; Pébay, Alice.

In: Aging, Vol. 9, No. 4, 04.2017, p. 1341-1350.

Research output: Contribution to journalArticle

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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

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.

KW - Journal Article

U2 - 10.18632/aging.101231

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Wong RCB, Lim SY, Hung SSC, Jackson S, Khan S, Van Bergen NJ et al. Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. Aging. 2017 Apr;9(4):1341-1350. https://doi.org/10.18632/aging.101231