Mitochondrial replacement in an iPSC model of Leber Hereditary Optic Neuropathy.

Wong, R.; Lim, S. Y.; Hung, S. S.; Jackson, S.; Khan, S.; Van Bergen, N. J.; De Smit, E.; Liang, H. H.; Kearns, L. S.; Clarke, L.; Mackey, D. A.; Hewitt, A.; Trounce, I. A.; Pebay, A.

doi:10.1101/120659

bioRxiv · 10.1101/120659

Mitochondrial replacement in an iPSC model of Leber Hereditary Optic Neuropathy.

Wong, R.·Lim, S. Y.·Hung, S. S.·Jackson, S.·Khan, S.·Van Bergen, N. J.·De Smit, E.·Liang, H. H.·Kearns, L. S.·Clarke, L.·Mackey, D. A.·Hewitt, A.·Trounce, I. A.·Pebay, A.

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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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Wong, R., Lim, S. Y., Hung, S. S., Jackson, S., Khan, S., Van Bergen, N. J., De Smit, E., Liang, H. H., Kearns, L. S., Clarke, L., Mackey, D. A., Hewitt, A., Trounce, I. A., Pebay, A.. 2017-03-26. Mitochondrial replacement in an iPSC model of Leber Hereditary Optic Neuropathy.. https://doi.org/10.1101/120659

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