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Mitochondrial DNA disease: new options for prevention

Lookup NU author(s): Dr Lyndsey Butterworth, Dr Joanna Elson, Dr Helen Tuppen, Dr Lisa Lister, Gareth Greggains, Professor Alison Murdoch, Professor Mary Herbert, Professor Doug Turnbull

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Abstract

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.


Publication metadata

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


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