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Research Support, Non-U.S. Gov't
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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
Aging 2017 April
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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