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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.
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
URL: http://dx.doi.org/10.1038/nature08958
DOI: 10.1038/nature08958
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