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Lookup NU author(s): Dr Lyndsey Butterworth, Dr Joanna Elson, Dr Helen Tuppen, Dr Lisa Ferguson, Gareth Greggains, Professor Alison Murdoch, Professor Mary Herbert, Emeritus Professor Doug Turnbull
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Very recently, two papers have presented intriguing data suggesting that prevention of transmission of human mitochondrial DNA (mtDNA) disease is possible. [Craven, L., Tuppen, H.A., Greggains, G.D., Harbottle, S.J., Murphy, J.L., Cree, L.M., Murdoch, A.P., Chinnery, P.F., Taylor, R.W., Lightowlers, R.N. et al. (2010) Pronuclear transfer in human embryos to prevent transmission of mitochondria! DNA disease. Nature, 465, 82-85. Tachibana, M., Sparman, M., Sritanaudomchai, H., Ma, H., Clepper, L., Woodward, J., Li, Y., Ramsey, C., Kolotushkina, O. and Mitalipov, S. (2009) Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature, 461, 367-372.] These recent advances raise hopes for families with mtDNA disease; however, the successful translational of these techniques to clinical practice will require further research to test for safety and to maximize efficacy. Furthermore, in the UK, amendment to the current legislation will be required. Here, we discuss the clinical and scientific background, studies we believe are important to establish safety and efficacy of the techniques and some of the potential concerns about the use of these approaches.
Author(s): Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D
Publication type: Review
Publication status: Published
Journal: Human Molecular Genetics
Year: 2011
Volume: 20
Issue: R2
Pages: R168-R174
Print publication date: 18/08/2011
ISSN (print): 0964-6906
ISSN (electronic): 1460-2083
Publisher: OXFORD UNIV PRESS
URL: http://dx.doi.org/10.1093/hmg/ddr373
DOI: 10.1093/hmg/ddr373
