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

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

来源：Aging-US, 2017, 9(4): 1341-1350.

DOI：10.18632/aging.101231

• Leber's hereditary optic neuropathy
• disease model
• induced pluripotent stem cells
• retinal ganglion cells
• cybrid

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.

• 出版日期2017-4
• 单位河北医科大学