Journal Article

Mitochondrial DNA disease: new options for prevention

Lyndsey Craven, Joanna L. Elson, Laura Irving, Helen A. Tuppen, Lisa M. Lister, Gareth D. Greggains, Samantha Byerley, Alison P. Murdoch, Mary Herbert and Doug Turnbull

in Human Molecular Genetics

Volume 20, issue R2, pages R168-R174
Published in print October 2011 | ISSN: 0964-6906
Published online August 2011 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddr373
Mitochondrial DNA disease: new options for prevention

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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 mitochondrial 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.

Journal Article.  3624 words.  Illustrated.

Subjects: Genetics and Genomics

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