Research Paper Volume 9, Issue 4 pp 1341—1350

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

Raymond C.B. Wong1,2, , Shiang Y. Lim3, , Sandy S.C. Hung1,2, , Stacey Jackson1,2, , Shahnaz Khan1,2, , Nicole J. Van Bergen1,2, , Elisabeth De Smit1,2, , Helena H. Liang1,2, , Lisa S Kearns1,2, , Linda Clarke1,2, , David A. Mackey4,5, , Alex W. Hewitt1,2,5, , Ian A. Trounce1,2,6, , Alice Pébay1,2,6, ,

  • 1 Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • 2 Department of Surgery, Ophthalmology, the University of Melbourne, Melbourne, Australia
  • 3 O’Brien Institute Department, St Vincent’s Institute of Medical Research, Victoria, Australia
  • 4 Centre for Ophthalmology and Vision Science, University of Western Australia, Lions Eye Institute, Nedlands, Australia
  • 5 School of Medicine, Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia
  • 6 Co-senior authors

Received: March 25, 2017       Accepted: April 23, 2017       Published: April 29, 2017      

https://doi.org/10.18632/aging.101231
How to Cite

Copyright: © 2017 Wong et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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.

Abbreviations

Cybrid: cyb; induced pluripotent stem cells: iPSCs; Leber hereditary optic neuropathy: LHON; Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes: MELAS; mitochondrial: mt; retinal ganglion cells: RGCs.