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

Nature

Volumn 465, Issue 7294, 2010, Pages 82-85

  Craven, Lyndsey ^a   Tuppen, Helen A ^a   Greggains, Gareth D ^b   Harbottle, Stephen J ^b   Murphy, Julie L ^a   Cree, Lynsey M ^a   Murdoch, Alison P ^b,c   Chinnery, Patrick F ^a   Taylor, Robert W ^a   Lightowlers, Robert N ^a   Herbert, Mary ^b,c   Turnbull, Douglass M ^a,c  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

DEVELOPMENTAL BIOLOGY; DISEASE PREVALENCE; EMBRYO; MITOCHONDRIAL DNA; MUTATION;

ARTICLE; BLASTOCYST; CELL NUCLEUS TRANSPLANTATION; CONTROLLED STUDY; DISEASE TRANSMISSION; DONOR; EMBRYO; FERTILIZATION; HUMAN; HUMAN EMBRYO; IN VITRO STUDY; METAPHASE; MITOCHONDRIAL DNA DISORDER; MITOSIS SPINDLE; OOCYTE; PRIORITY JOURNAL; PRONUCLEUS; ZYGOTE;

BLASTOMERES; DNA, MITOCHONDRIAL; EMBRYO, MAMMALIAN; HUMANS; MITOCHONDRIAL DISEASES; NUCLEAR TRANSFER TECHNIQUES; ZYGOTE;

EID: 77952096877     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature08958     Document Type: Article

References (30)

1. Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L. & Chinnery, P. F. Pathogenic mitochondrial DNA mutations are common in the general population. Am. J. Hum. Genet. 83, 254-260 (2008).
2. Vandebona, H. et al. Prevalence of mitochondrial 1555ARG mutation in adults of European descent. N. Engl. J. Med. 360, 642-644 (2009).
3. Bitner-Glindzicz, M. et al. Prevalence of mitochondrial 1555ARG mutation in European children. N. Engl. J. Med. 360, 640-642 (2009).
4. Schaefer, A. M. et al. Prevalence of mitochondrial DNA disease in adults. Ann. Neurol. 63, 35-39 (2008).
5. Sato, A. et al. Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation. Proc. Natl Acad. Sci. USA 102, 16765-16770 (2005).
6. Brown, D. T. et al. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 368, 87-89 (2006).
7. Wallace, D. C. Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu. Rev. Biochem. 76, 781-821 (2007).
8. DiMauro, S. & Schon, E. A. Mitochondrial disorders in the nervous system. Annu. Rev. Neurosci. 31, 91-123 (2008).
9. Man, P. Y. et al. The epidemiology of Leber hereditary optic neuropathy in the north east of England. Am. J. Hum. Genet. 72, 333-339 (2003).
10. Taylor, R. W. & Turnbull, D. M. Mitochondrial DNA mutations in human disease. Nature Rev. Genet. 6, 389-402 (2005).
11. Steffann, J. et al. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J. Med. Genet. 43, 244-247 (2006).
12. Piko, L. & Taylor, K. D. Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos. Dev. Biol. 123, 364-374 (1987).
13. Barritt, J. A., Kokot, M., Cohen, J., Steuerwald, N. & Brenner, C. A. Quantification of human ooplasmic mitochondria. Reprod. Biomed. Online 4, 243-247 (2002).
14. Lin, D. P. et al. Comparison of mitochondrial DNA contents in human embryos with good or poor morphology at the 8-cell stage. Fertil. Steril. 81, 73-79 (2004).
15. Tajima, H. et al. The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy. J. Assist. Reprod. Genet. 24, 227-232 (2007).
16. Tachibana, M. et al. Mitochondrial gene replacement in primate offspring and embryonic stem cells. Nature 461, 367-372 (2009).
17. Battaglia, D. E., Goodwin, P., Klein, N. A. & Soules, M. R. Fertilization and early embryology: influence of maternal age on meiotic spindle assembly oocytes from naturally cycling women. Hum. Reprod. 11, 2217-2222 (1996).
18. Almeida, P. A. & Bolton, V. N. The effect of temperature fluctuations on the cytoskeletal organisation and chromosomal constitution of the human oocyte. Zygote 3, 357-365 (1995).
19. Meirelles, F. V. & Smith, L. C. Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation. Genetics 145, 445-451 (1997).
20. Feenan, K. & Herbert, M. Can 'abnormally' fertilized zygotes give rise to viable embryos? Hum. Fertil. (Camb.) 9, 157-169 (2006).
21. Chinnery, P., Majamaa, K., Turnbull, D. & Thorburn, D. Treatment for mitochondrial disorders. Cochrane Database Syst. Rev. CD004426 (2006).
22. McFarland, R. et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genet. 30, 145-146 (2002).
23. Rahman, S., Poulton, J., Marchington, D. & Suomalainen, A. Decrease of 3243 ARG mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am. J. Hum. Genet. 68, 238-240 (2001).
24. Reik, W. et al. Adult phenotype in the mouse can be affected by epigenetic events in the early embryo. Development 119, 933-942 (1993).
25. Taylor, R. W., Taylor, G. A., Durham, S. E. & Turnbull, D. M. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res. 29, e74 (2001).
26. Andrews, R. M. et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nature Genet. 23, 147 (1999).
27. Taylor, R. W. et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 41, 1786-1796 (2003).
28. McFarland, R. et al. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann. Neurol. 55, 478-484 (2004).
29. He, L. et al. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res. 30, e68 (2002).
30. Krishnan, K. J., Bender, A., Taylor, R. W. & Turnbull, D. M. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal. Biochem. 370, 127-129 (2007).