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Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation
Open accessAbstract
Pathogenic mutations in mtDNAs have been shown to be responsible for expression of respiration defects and resultant expression of mitochondrial diseases. This study directly addressed the issue of gene therapy of mitochondrial diseases by using nuclear transplantation of zygotes of transmitochondria mice (mito-mice). Mito-mice expressed respiration defects and mitochondrial diseases due to accumulation of mtDNA carrying a large-scale deletion (DeltamtDNA). Second polar bodies were used as biopsy samples for diagnosis of mtDNA genotypes of mito-mouse zygotes. Nuclear transplantation was carried out from mito-mouse zygotes to enucleated normal zygotes and was shown to rescue all of the F(0) progeny from expression of respiration defects throughout their lives. This procedure should be applicable to patients with mitochondrial diseases for preventing their children from developing the diseases.
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“Previous studies in heteroplasmic mice have suggested the feasibility of this approach [253].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [253]
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Cites
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060
Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W., & Wallace, D. C. (1990) · Cell · doi:10.1016/0092-8674(90)90059-n · Cited by 1,476
Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y., & Nonaka, I. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.23.10614 · Cited by 553
MOLECULAR GENETIC ASPECTS OF HUMAN MITOCHONDRIAL DISORDERS
Larsson, N.-G., & Clayton, D. A. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.001055 · Cited by 493
Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D. R., Lai, S. T., Nonaka, I., Angelini, C. I., & Attardi, G. M. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4221 · Cited by 491
Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis.
Kaneda, H., Hayashi, J., Takahama, S., Taya, C., Lindahl, K. F., & Yonekawa, H. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.10.4542 · Cited by 462
King, M. P., Koga, Y., Davidson, M., & Schon, E. A. (1992) · Molecular and Cellular Biology · doi:10.1128/mcb.12.2.480 · Cited by 458
Nakada, K., Inoue, K., Ono, T., Isobe, K., Ogura, A., Goto, Y., Nonaka, I., & Hayashi, J. (2001) · Nature Medicine · doi:10.1038/90976 · Cited by 430
Ono, T., Isobe, K., Nakada, K., & Hayashi, J.-I. (2001) · Nature Genetics · doi:10.1038/90116 · Cited by 420
Inoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y.-I., Nonaka, I., & Hayashi, J.-I. (2000) · Nature Genetics · doi:10.1038/82826 · Cited by 333
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- Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G. & Attardi, G. (1991) Mol. Cell. Biol. 11, 2236-2244.1848674
- 10.1128/mcb.12.2.480-490.1992 · DOI · Paper page
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Generation of mitochondrial replacement monkeys by female pronucleus transfer
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三藤, 崇. (2015) · Terrestrial Environment Research Center (University of Tsukuba)
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Mauro, S. D. (2009) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.1164559.625755
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Zeviani, M., & Viscomi, C. F. (2009) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.1164559.626199
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Metadata
- Authors
- Sato, A., Kono, T., Nakada, K., Ishikawa, K., Inoue, S.-I., Yonekawa, H., & Hayashi, J.-I.
- Affiliations
- Tokyo University of Agriculture (JP)
- Graduate School of Life and Environmental Sciences, Center for Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Ibaraki 305-8572, Japan; Department of Laboratory Animal Science, Tokyo Metropolitan Institute of Medical Science, Tokyo 113-8613, Japan; Department of BioScience, Tokyo University of Agriculture, Tokyo 156-8502, Japan; and Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Saitama 332-0012, Japan
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2005-11-07
- Volume
- 102
- Issue
- 46
- Pages
- 16765-16770
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1283814
- OpenAlex
- W2063371306
- Cited by
- 171
- References
- 22
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 3 · 2023: 8 · 2022: 3 · 2021: 9 · 2020: 8 · 2019: 6 · 2018: 8 · 2017: 10 · 2016: 12 · 2015: 6 · 2014: 13 · 2013: 10 · 2012: 4
- FWCI
- 3.53
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Keywords
- gene therapy, mitochondrial disease, nuclear transplantation, mitochondrial DNA deletions, polar body biopsy, mitochondrial DNA
- MeSH terms
- Aging, Animals, DNA, Mitochondrial, Genotype, Growth, Mice, Inbred C57BL, Mice, Mutant Strains, Oxygen Consumption, Phenotype, Blotting, Southern, Genetic Therapy, Fetal Development, Mice, Nuclear Transfer Techniques
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