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Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations

Lookup NU author(s): Gareth Greggains, Dr Lisa Ferguson, Dr Helen Tuppen, Qi Zhang, Dr Nilendran Prathalingam, Dr Louise Hyslop, Dr Lyndsey Butterworth, Professor Alison Murdoch, Emeritus Professor Doug Turnbull, Professor Mary Herbert



This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0).


Induced pluripotent stem cells (iPSCs) hold much promise in the quest for personalised cell therapies. However, the persistence of founder cell mitochondrial DNA (mtDNA) mutations limits the potential of iPSCs in the development of treatments for mtDNA disease. This problem may be overcome by using oocytes containing healthy mtDNA, to induce somatic cell nuclear reprogramming. However, the extent to which somatic cell mtDNA persists following fusion with human oocytes is unknown. Here we show that human nuclear transfer (NT) embryos contain very low levels of somatic cell mtDNA. In light of a recent report that embryonic stem cells can be derived from human NT embryos, our results highlight the therapeutic potential of NT for mtDNA disease, and underscore the importance of using human oocytes to pursue this goal.

Publication metadata

Author(s): Greggains GD, Lister LM, Tuppen HAL, Zhang Q, Needham LH, Prathalingam N, Hyslop LA, Craven L, Polanski Z, Murdoch AP, Turnbull DM, Herbert M

Publication type: Article

Publication status: Published

Journal: Scientific Reports

Year: 2014

Volume: 4

Online publication date: 24/01/2014

Acceptance date: 24/12/2013

Date deposited: 07/03/2014

ISSN (electronic): 2045-2322

Publisher: Nature Publishing Group


DOI: 10.1038/srep03844


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Funder referenceFunder name
096919/Z/11/ZWellcome Trust
G0601157Medical Research Council