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Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

Lookup NU author(s): Dr Lyndsey Butterworth, Dr Helen Tuppen, Gareth Greggains, Dr Julie Murphy, Dr Lynsey Cree, Professor Alison Murdoch, Professor Patrick Chinnery, Professor Robert Taylor, Professor Robert Lightowlers, Professor Mary Herbert, Emeritus Professor Doug Turnbull


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Mutations in mitochondrial DNA ( mtDNA) are a common cause of genetic disease. Pathogenic mutations in mtDNA are detected in approximately 1 in 250 live births(1-3) and at least 1 in 10,000 adults in the UK are affected by mtDNA disease(4). Treatment options for patients with mtDNA disease are extremely limited and are predominantly supportive in nature. Mitochondrial DNA is transmitted maternally and it has been proposed that nuclear transfer techniques may be an approach for the prevention of transmission of human mtDNA disease(5,6). Here we show that transfer of pronuclei between abnormally fertilized human zygotes results in minimal carry-over of donor zygote mtDNA and is compatible with onward development to the blastocyst stage in vitro. By optimizing the procedure we found the average level of carry-over after transfer of two pronuclei is less than 2.0%, with many of the embryos containing no detectable donor mtDNA. We believe that pronuclear transfer between zygotes, as well as the recently described metaphase II spindle transfer, has the potential to prevent the transmission of mtDNA disease in humans.

Publication metadata

Author(s): Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Nature

Year: 2010

Volume: 465

Issue: 7294

Pages: 82-85

Print publication date: 14/04/2010

ISSN (print): 0028-0836

ISSN (electronic): 1476-4687

Publisher: Nature Publishing Group


DOI: 10.1038/nature08958


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Funder referenceFunder name
Economic and Social Research Council
Biotechnology and Biological Sciences Research Council
Engineering and Physical Sciences Research Council
Muscular Dystrophy Campaign
UK National Institute for Health Research Biomedical Research Centre for Ageing and Age-related Disease
074454/Z/04/ZWellcome Trust
G0700718Medical Research Council
G0601157Medical Research Council
G0601943Medical Research Council