The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
Open accessAbstract
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 and at least 1 in 10,000 adults in the UK are affected by mtDNA disease. 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. 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.
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Cites
Decrease of 3243 A–>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study
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Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation
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Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395
Self-citationMitochondrial and nuclear DNA matching shapes metabolism and healthy ageing
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Yu-Wai-Man, P., Votruba, M., Burté, F., La Morgia, C., Barboni, P., & Carelli, V. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1625-2 · Cited by 176
Single-Cell DNA-Methylation Analysis Reveals Epigenetic Chimerism in Preimplantation Embryos
Lorthongpanich, C., Cheow, L. F., Balu, S., Quake, S. R., Knowles, B. B., Burkholder, W. F., Solter, D., & Messerschmidt, D. M. (2013) · Science · doi:10.1126/science.1240617 · Cited by 154
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Artificial Mitochondria Transfer: Current Challenges, Advances, and Future Applications
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Pyle, A., Hudson, G., Wilson, I. J., Coxhead, J., Smertenko, T., Herbert, M., Santibanez-Koref, M., & Chinnery, P. F. (2015) · PLOS Genetics · doi:10.1371/journal.pgen.1005040 · Cited by 77
Self-citationPalacios-González, C., & Medina-Arellano, M. D. J. (2017) · Journal of Law and the Biosciences · doi:10.1093/jlb/lsw065 · Cited by 57
Human Germline Genome Editing: On the Nature of Our Reasons to Genome Edit
Sparrow, R. (2022) · The American Journal of Bioethics · doi:10.1080/15265161.2021.1907480 · Cited by 40
Miller, D. M., Archer, S. L., & Dunham-Snary, K. J. (2025) · Frontiers in Aging · doi:10.3389/fragi.2025.1585508 · Cited by 11
Metadata
- Authors
- 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., Herbert, M., & Turnbull, D. M.
- Venue
- Nature
- Published
- 2010-04-14
- Volume
- 465
- Issue
- 7294
- Pages
- 82-85
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2015710217
- Cited by
- 480
- References
- 3
- FWCI
- 14.92
- Type
- journal article
- Language
- en
- Open access
- green
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
