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.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Previous studies in heteroplasmic mice have suggested the feasibility of pronuclear transfer.
“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]
Cites
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060 · see citing works
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 1,468 · see citing works
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 552 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Ono, T., Isobe, K., Nakada, K., & Hayashi, J.-I. (2001) · Nature Genetics · doi:10.1038/90116 · Cited by 420 · see citing works
Inoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y., Nonaka, I., & Hayashi, J.-I. (2000) · Nature Genetics · doi:10.1038/82826 · Cited by 393 · see citing works
Recombination of Human Mitochondrial DNA
Kraytsberg, Y., Schwartz, M., Brown, T. A., Ebralidse, K. K., Kunz, W. S., Clayton, D. A., Vissing, J., & Khrapko, K. (2004) · Science · doi:10.1126/science.1096342 · Cited by 303 · see citing works
Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G., & Attardi, G. M. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.4.2236 · Cited by 301 · see citing works
Shitara, H., Hayashi, J., Takahama, S., Kaneda, H., & Yonekawa, H. (1998) · Genetics · doi:10.1093/genetics/148.2.851 · Cited by 232 · see citing works
Yoneda, M., Miyatake, T., & Attardi, G. M. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.4.2699 · Cited by 193 · see citing works
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options
Thorburn, D. R., & Dahl, H. M. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1380 · Cited by 180 · see citing works
Evidence from Human Oocytes for a Genetic Bottleneck in an mtDNA Disease
Marchington, D. R., Macaulay, V. A., Hartshorne, G. M., Barlow, D., & Poulton, J. (1998) · The American Journal of Human Genetics · doi:10.1086/302009 · Cited by 149 · see citing works
Shitara, H., Kaneda, H., Sato, A., Inoue, K., Ogura, A., Yonekawa, H., & Hayashi, J. (2000) · Genetics · doi:10.1093/genetics/156.3.1277 · Cited by 148 · see citing works
Battersby, B. J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.22.2469 · Cited by 101 · see citing works
Chomyn, A., Meola, G., Bresolin, N., et al. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.4.2236-2244.1991 · Cited by 79 · see citing works
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases
Dean, N. L. (2003) · Molecular Human Reproduction · doi:10.1093/molehr/gag077 · Cited by 74 · see citing works
Yoneda, M., Miyatake, T., & Attardi, G. M. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.4.2699-2712.1994 · Cited by 70 · see citing works
Rare creation of recombinant mtDNA haplotypes in mammalian tissues
Sato, A., Nakada, K., Akimoto, M., Ishikawa, K., Ono, T., Shitara, H., Yonekawa, H., & Hayashi, J. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408666102 · Cited by 53 · see citing works
Accumulation of pathogenic ΔmtDNA induced deafness but not diabetic phenotypes in mito-mice
Nakada, K., Sato, A., Sone, H., Kasahara, A., Ikeda, K., Kagawa, Y., Yonekawa, H., & Hayashi, J. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.08.073 · Cited by 44 · see citing works
In Vivo Interaction Between Mitochondria Carrying mtDNAs From Different Mouse Species
Sato, A., Nakada, K., Shitara, H., Yonekawa, H., & Hayashi, J. (2004) · Genetics · doi:10.1534/genetics.103.021287 · Cited by 15 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676 · see citing works
“Previous studies in heteroplasmic mice have suggested the feasibility of this approach [253].”
BackgroundMitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and DiseasePreprint
Dc, W., & Chalkia, D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a021220 · Cited by 656 · see citing works
Mitochondrial ATP synthase: architecture, function and pathology
Jonckheere, A. I., Smeitink, J. A. M., & Rodenburg, R. J. (2011) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9382-9 · Cited by 617 · see citing works
Mitochondrial gene replacement in primate offspring and embryonic stem cells
Tachibana, M., Sparman, M. L., Sritanaudomchai, H., Ma, H., Clepper, L., Woodward, J., Li, Y., Ramsey, C. M., Kolotushkina, O., & Mitalipov, S. M. (2009) · Nature · doi:10.1038/nature08368 · Cited by 565 · see citing works
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
Craven, L., Tuppen, H. A. L., 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) · Nature · doi:10.1038/nature08958 · Cited by 478 · see citing works
Mutations causing mitochondrial disease: What is new and what challenges remain?
Lightowlers, R. N., Taylor, R. W., & Turnbull, D. M. (2015) · Science · doi:10.1126/science.aac7516 · Cited by 341 · see citing works
Recent Advances in Mitochondrial Disease
Craven, L., Alston, C. L., Taylor, R. W., & Turnbull, D. M. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091416-035426 · Cited by 290 · see citing works
John, J. C. S., Facucho-Oliveira, J., Jiang, Y. P., Kelly, R. D., & Salah, R. (2010) · Human Reproduction Update · doi:10.1093/humupd/dmq002 · Cited by 285 · see citing works
Mitochondria-related male infertility
Nakada, K., Sato, A., Yoshida, K., Morita, T., Tanaka, H., Inoue, S., Yonekawa, H., & Hayashi, J. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0604641103 · Cited by 266 · see citing works
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants
Paull, D. J., Emmanuele, V., Weiss, K. A., Treff, N. R., Stewart, L. A., Hua, H., Zimmer, M., Kahler, D. J., Goland, R., Noggle, S., et al. (2012) · Nature · doi:10.1038/nature11800 · Cited by 257 · see citing works
Mitochondrial diseases: from molecular mechanisms to therapeutic advances
Wen, H., Deng, H., Li, B., Chen, J., Zhu, J., Zhang, X., Yoshida, S., & Zhou, Y. (2025) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-02044-3 · Cited by 250 · see citing works
Polar Body Genome Transfer for Preventing the Transmission of Inherited Mitochondrial Diseases
Wang, T., Sha, H., Ji, D., Zhang, H. L., Chen, D., Cao, Y., & Zhu, J. (2014) · Cell · doi:10.1016/j.cell.2014.04.042 · Cited by 181 · see citing works
Mitochondrial replacement therapy in reproductive medicine
Wolf, D. P., Mitalipov, N., & Mitalipov, S. M. (2014) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2014.12.001 · Cited by 173 · see citing works
Qiao, J., Wang, Z., Feng, H.-L., Miao, Y., Wang, Q., Yu, Y., Wei, Y., Yan, J., Wang, W., Shen, W., et al. (2013) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2013.06.001 · Cited by 157 · see citing works
Mitochondrial Replacement, Evolution, and the Clinic
Reinhardt, K., Dowling, D. K., & Morrow, E. H. (2013) · Science · doi:10.1126/science.1237146 · Cited by 154 · see citing works
Approaches to the treatment of mitochondrial diseases
DiMauro, S., Hirano, M., & Schon, E. A. (2006) · Muscle & Nerve · doi:10.1002/mus.20598 · Cited by 138 · see citing works
The Not So ‘Mighty Chondrion’: Emergence of Renal Diseases due to Mitochondrial Dysfunction
Hall, A. M., & Unwin, R. J. (2006) · Nephron Physiology · doi:10.1159/000096860 · Cited by 121 · see citing works
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Thorburn, D. R., Rahman, J., & Rahman, S. (2014) · University of Washington, Seattle eBooks · Cited by 116 · see citing works
Mitochondrial DNA mutations and aging: devils in the details?
Khrapko, K., & Vijg, J. (2009) · Trends in Genetics · doi:10.1016/j.tig.2008.11.007 · Cited by 112 · see citing works
Transmission of mitochondrial DNA disorders: possibilities for the future
Brown, D., Herbert, M., Lamb, V. K., Chinnery, P. F., Taylor, R. W., Lightowlers, R., Craven, L., Cree, L. M., Gardner, J., & Turnbull, D. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68972-1 · Cited by 97 · see citing works
Quantifying the genomic decay paradox due to Muller's ratchet in human mitochondrial DNA
Loewe, L. (2006) · Genetics Research · doi:10.1017/s0016672306008123 · Cited by 94 · see citing works
Transmission of Mitochondrial DNA Diseases and Ways to Prevent Them
Poulton, J., Chiaratti, M. R., Meirelles, F. V., Kennedy, S., Wells, D., & Holt, I. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001066 · Cited by 92 · see citing works
Mitochondrial DNA mutations in human disease
Greaves, L. C., & Taylor, R. W. (2006) · IUBMB Life · doi:10.1080/15216540600686888 · Cited by 88 · see citing works
Inoue, S., Noda, S., Kashima, K., Nakada, K., Hayashi, J., & Miyoshi, H. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.06.036 · Cited by 85 · see citing works
Social and ethical issues in mitochondrial donation: Fig. 1
Dimond, R. (2015) · British Medical Bulletin · doi:10.1093/bmb/ldv037 · Cited by 84 · see citing works
Clinical and ethical implications of mitochondrial gene transfer
Mitalipov, S. M., & Wolf, D. P. (2013) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2013.09.001 · Cited by 84 · see citing works
Current and Emerging Clinical Treatment in Mitochondrial Disease
Tinker, R. J., Lim, A. Z., Stefanetti, R. J., & McFarland, R. (2021) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-020-00510-6 · Cited by 83 · see citing works
Bottani, E., Lamperti, C., Prigione, A., Tiranti, V., Persico, N., & Brunetti, D. (2020) · Pharmaceutics · doi:10.3390/pharmaceutics12111083 · Cited by 85 · see citing works
Mitochondrial Replacement Therapy: Are Mito-nuclear Interactions Likely To Be a Problem?
Eyre‐Walker, A. (2017) · Genetics · doi:10.1534/genetics.116.196436 · Cited by 82 · see citing works
Mitochondrial DNA disease: new options for prevention
Craven, L., Elson, J. L., Irving, L., Tuppen, H. A. L., Lister, L., Greggains, G. D., Byerley, S., Murdoch, A. P., Herbert, M., & Turnbull, D. M. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr373 · Cited by 78 · see citing works
Mitochondrial function and mitochondrial DNA maintenance with advancing age
Gaziev, A. I., Abdullaev, S., & Podlutsky, A. (2014) · Biogerontology · doi:10.1007/s10522-014-9515-2 · Cited by 77 · see citing works
Progress and prospects: gene therapy for mitochondrial DNA disease
Kyriakouli, D. S., Boesch, P., Taylor, R. W., & Lightowlers, R. N. (2008) · Gene Therapy · doi:10.1038/gt.2008.91 · Cited by 76 · see citing works
Novel reproductive technologies to prevent mitochondrial disease
Craven, L., Tang, M., Gorman, G. S., Sutter, P. D., & Heindryckx, B. (2017) · Human Reproduction Update · doi:10.1093/humupd/dmx018 · Cited by 71 · see citing works
Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer
Spikings, E. C., Alderson, J., & John, J. C. S. (2006) · Human Reproduction Update · doi:10.1093/humupd/dml011 · Cited by 70 · see citing works
Richardson, J. M., Irving, L., Hyslop, L., Choudhary, M. K., Murdoch, A. P., Turnbull, D. M., & Herbert, M. (2014) · Stem Cells · doi:10.1002/stem.1887 · Cited by 66 · see citing works
Aberrant Nucleo-cytoplasmic Cross-Talk Results in Donor Cell mtDNA Persistence in Cloned Embryos
Lloyd, R. E. I., Lee, J., Alberio, R., Bowles, E. J., Ramalho‐Santos, J., Campbell, K., & John, J. C. S. (2006) · Genetics · doi:10.1534/genetics.105.055145 · Cited by 67 · see citing works
Implications of human evolution and admixture for mitochondrial replacement therapy
Rishishwar, L., & Jordan, I. K. (2017) · BMC Genomics · doi:10.1186/s12864-017-3539-3 · Cited by 64 · see citing works
Mobarak, H., Heidarpour, M., Tsai, P., Rezabakhsh, A., Rahbarghazi, R., Nouri, M., & Mahdipour, M. (2019) · Cell & Bioscience · doi:10.1186/s13578-019-0360-5 · Cited by 63 · see citing works
The mtDNA mutator mouse: Dissecting mitochondrial involvement in aging
Edgar, D., & Trifunović, A. (2009) · Aging · doi:10.18632/aging.100109 · Cited by 61 · see citing works
Ethics of modifying the mitochondrial genome
Bredenoord, A. L., Dondorp, W., Pennings, G., & de Wert, G. M. W. R. (2010) · Journal of Medical Ethics · doi:10.1136/jme.2010.037481 · Cited by 58 · see citing works
Sato, A., Nakada, K., & Hayashi, J. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.03.001 · Cited by 57 · see citing works
Tachibana, M., Kuno, T., & Yaegashi, N. (2018) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12230 · Cited by 57 · see citing works
Therapeutic applications of mitochondrial transplantation
Ülger, Ö., & Kubat, G. B. (2022) · Biochimie · doi:10.1016/j.biochi.2022.01.002 · Cited by 56 · see citing works
Nuclear Transfer: Preservation of a Nuclear Genome at the Expense of Its Associated mtDNA Genome(s)
Bowles, E. J., Campbell, K., & John, J. C. S. (2007) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(06)77010-7 · Cited by 54 · see citing works
Cree, L. M., & Loi, P. (2014) · Molecular Human Reproduction · doi:10.1093/molehr/gau082 · Cited by 53 · see citing works
Deletion-Mutant mtDNA Increases in Somatic Tissues but Decreases in Female Germ Cells With Age
Sato, A., Nakada, K., Shitara, H., Kasahara, A., Yonekawa, H., & Hayashi, J. (2007) · Genetics · doi:10.1534/genetics.107.081026 · Cited by 51 · see citing works
Mitochondrial functional complementation in mitochondrial DNA-based diseases
Nakada, K., Sato, A., & Hayashi, J. (2009) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2009.05.010 · Cited by 50 · see citing works
Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system
Nishiyama, S., Shitara, H., Nakada, K., Ono, T., Sato, A., Suzuki, H., Ogawa, T., Masaki, H., Hayashi, J.-I., & Yonekawa, H. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.08.143 · Cited by 46 · see citing works
Shimizu, A., Mito, T., Hayashi, C., Ogasawara, E., Koba, R., Negishi, I., Takenaga, K., Nakada, K., & Hayashi, J. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1318109111 · Cited by 47 · see citing works
Rai, P. K., Craven, L., Hoogewijs, K., Russell, O. M., & Lightowlers, R. N. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170113 · Cited by 47 · see citing works
Preventing transmission of maternally inherited mitochondrial DNA diseases
Poulton, J., Kennedy, S. J., Oakeshott, P., & Wells, D. (2009) · BMJ · doi:10.1136/bmj.b94 · Cited by 46 · see citing works
Mitochondrial DNA Transmission and Transcription After Somatic Cell Fusion to One or More Cytoplasts
Bowles, E. J., Tecirlioglu, R. T., French, A. J., Holland, M. K., & John, J. C. S. (2008) · Stem Cells · doi:10.1634/stemcells.2007-0747 · Cited by 45 · see citing works
Mitochondria: emerging therapeutic strategies for oocyte rescue
Jiang, Z., & Shen, H. (2021) · Reproductive Sciences · doi:10.1007/s43032-021-00523-4 · Cited by 44 · see citing works
Do mtDNA deletions drive premature aging in mtDNA mutator mice?
Kraytsberg, Y., Simon, D. K., Turnbull, D. M., & Khrapko, K. (2009) · Aging Cell · doi:10.1111/j.1474-9726.2009.00484.x · Cited by 42 · see citing works
Chromosome transfer in mature oocytes
Tachibana, M., Sparman, M. L., & Mitalipov, S. M. (2010) · Nature Protocols · doi:10.1038/nprot.2010.75 · Cited by 41 · see citing works
Salminen, T. S., & Vale, P. F. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.00521 · Cited by 40 · see citing works
Current progress with mammalian models of mitochondrial DNA disease
Stewart, J. B. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12324 · Cited by 39 · see citing works
Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.010 · Cited by 39 · see citing works
Mitochondrial DNA Copy Number and Developmental Origins of Health and Disease (DOHaD)
Fukunaga, H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22126634 · Cited by 39 · see citing works
Pathogenesis and Treatment of Mitochondrial Disorders
DiMauro, S., & Hirano, M. (2009) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-2813-6_10 · Cited by 39 · see citing works
Mito, T., Kikkawa, Y., Shimizu, A., Hashizume, O., Katada, S., Imanishi, H., Ota, A., Kato, Y., Nakada, K., & Hayashi, J. (2013) · PLoS ONE · doi:10.1371/journal.pone.0055789 · Cited by 38 · see citing works
Poulton, J., & Bredenoord, A. L. (2010) · Neuromuscular Disorders · doi:10.1016/j.nmd.2010.05.008 · Cited by 37 · see citing works
Mutations of mitochondrial DNA – cause or consequence of the ageing process?
Meißner, C. (2007) · Zeitschrift für Gerontologie und Geriatrie · doi:10.1007/s00391-007-0481-z · Cited by 37 · see citing works
Scientific and Ethical Issues in Mitochondrial Donation
Craven, L., Murphy, J. L., Turnbull, D. M., Taylor, R. W., Gorman, G. S., & McFarland, R. (2018) · The New Bioethics · doi:10.1080/20502877.2018.1440725 · Cited by 36 · see citing works
Neupane, J., Vandewoestyne, M., Ghimire, S., Lu, Y., Qian, C., Coster, R. V., Gerris, J., Deroo, T., Deforce, D. L. D., Sutter, P. D., et al. (2014) · Mitochondrion · doi:10.1016/j.mito.2014.09.003 · Cited by 33 · see citing works
Mitochondrial content is central to nuclear gene expression: Profound implications for human health
Muir, R., Diot, A., & Poulton, J. (2016) · BioEssays · doi:10.1002/bies.201500105 · Cited by 34 · see citing works
Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
Sendra, L., García-Mares, A., Herrero, M. J., & Aliño, S. F. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020551 · Cited by 33 · see citing works
Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems
Kuszak, A. J., Espey, M. G., Falk, M. J., Holmbeck, M. A., Manfredi, G., Shadel, G. S., Vernon, H. J., & Zolkipli‐Cunningham, Z. (2017) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-020117-043644 · Cited by 33 · see citing works
Heindryckx, B., Neupane, J., Vandewoestyne, M., Christodoulou, C. I., Jackers, Y., Gerris, J., den Abbeel, E. V., Coster, R. V., Deforce, D. L. D., & Sutter, P. D. (2014) · Mitochondrion · doi:10.1016/j.mito.2014.08.005 · Cited by 29 · see citing works
Therapeutic treatments of mtDNA diseases at the earliest stages of human development
Chiaratti, M. R., Meirelles, F. V., Wells, D., & Poulton, J. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.11.004 · Cited by 28 · see citing works
Human–animal cytoplasmic hybrid embryos, mitochondria, and an energetic debate
John, J. C. S., & Lovell-Badge, R. H. (2007) · Nature Cell Biology · doi:10.1038/ncb436 · Cited by 29 · see citing works
Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse
Sachadyn, P., Zhang, X., Clark, L. D., Naviaux, R. K., & Heber‐Katz, E. (2008) · Mitochondrion · doi:10.1016/j.mito.2008.07.007 · Cited by 28 · see citing works
Experimental Strategies Towards Treating Mitochondrial DNA Disorders
Gardner, J. L., Craven, L., Turnbull, D. M., & Taylor, R. W. (2007) · Bioscience Reports · doi:10.1007/s10540-007-9042-3 · Cited by 28 · see citing works
Transmitochondrial Mice as Models for Mitochondrial DNA-Based Diseases
Nakada, K., & Hayashi, J. (2011) · EXPERIMENTAL ANIMALS · doi:10.1538/expanim.60.421 · Cited by 27 · see citing works
Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis
Fanti, S. D., Vicario, S., Lang, M., Simone, D., Magli, M. C., Luiselli, D., Gianaroli, L., & Romeo, G. C. (2017) · Human Reproduction · doi:10.1093/humrep/dex051 · Cited by 27 · see citing works
Inoue, S., Yokota, M., Nakada, K., Miyoshi, H., & Hayashi, J. (2007) · FEBS Letters · doi:10.1016/j.febslet.2007.03.092 · Cited by 27 · see citing works
Diot, A., Dombi, E., Lodge, T., Liao, C., Morten, K., Carver, J. G., Wells, D., Child, T. J., Johnston, I. G., Williams, S. A., et al. (2016) · Biochemical Society Transactions · doi:10.1042/bst20160095 · Cited by 26 · see citing works
Polar Bodies in Assisted Reproductive Technology: Current Progress and Future Perspectives1
Wei, Y., Zhang, T., Wang, Y., Schatten, H., & Sun, Q. (2014) · Biology of Reproduction · doi:10.1095/biolreprod.114.125575 · Cited by 24 · see citing works
Bredenoord, A. L., Dondorp, W., Pennings, G., & de Wert, G. M. W. R. (2010) · Human Reproduction · doi:10.1093/humrep/deq077 · Cited by 24 · see citing works
Engelstad, K., Sklerov, M., Kriger, J., Sanford, A. R., Grier, J., Ash, D., Egli, D. M., DiMauro, S., Thompson, J. L. P., Sauer, M. V., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew033 · Cited by 23 · see citing works
Segregation of Naturally Occurring Mitochondrial DNA Variants in a Mini-Pig Model
Cagnone, G., Tsai, T., Srirattana, K., Rossello, F. J., Powell, D., Rohrer, G. A., Cree, L. M., Trounce, I. A., & John, J. C. S. (2016) · Genetics · doi:10.1534/genetics.115.181321 · Cited by 23 · see citing works
Listening to mother: Long‐term maternal effects in mammalian development
Ruebel, M. L., & Latham, K. E. (2020) · Molecular Reproduction and Development · doi:10.1002/mrd.23336 · Cited by 23 · see citing works
Mitochondrial complementation preventing respiratory dysfunction caused by mutant mtDNA
Sato, A., Nakada, K., & Hayashi, J. (2009) · BioFactors · doi:10.1002/biof.14 · Cited by 21 · see citing works
Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion
Ogasawara, E., Nakada, K., & Hayashi, J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq228 · Cited by 23 · see citing works
Mitochondrial replacement by genome transfer in human oocytes: Efficacy, concerns, and legality
Yamada, M., Sato, S., Ooka, R., Akashi, K., Nakamura, A., Miyado, K., Akutsu, H., & Tanaka, M. (2020) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12356 · Cited by 20 · see citing works
Reproductive options in mitochondrial disease
Smeets, H. J. M., Sallevelt, S. C. E. H., & Herbert, M. (2023) · Handbook of clinical neurology · doi:10.1016/b978-0-12-821751-1.00004-x · Cited by 21 · see citing works
Neupane, J., Vandewoestyne, M., Heindryckx, B., Ghimire, S., Lu, Y., Qian, C., Lierman, S., Coster, R. V., Gerris, J., Deroo, T., et al. (2014) · Human Reproduction · doi:10.1093/humrep/deu016 · Cited by 21 · see citing works
Harnessing the Stem Cell Potential: The path to prevent mitochondrial disease
Tanaka, A., Sauer, M. V., Egli, D. M., & Kort, D. H. (2013) · Nature Medicine · doi:10.1038/nm.3422 · Cited by 20 · see citing works
Mitochondrial Replacement Techniques: Divergence in Global Policy
Schandera, J., & Mackey, T. K. (2016) · Trends in Genetics · doi:10.1016/j.tig.2016.04.006 · Cited by 20 · see citing works
Preventing Mitochondrial Diseases: Embryo-Sparing Donor-Independent Options
Adashi, E. Y., & Cohen, I. G. (2018) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2018.03.002 · Cited by 20 · see citing works
Can cytoplasmic donation rescue aged oocytes?
Tanaka, A., & Watanabe, S. (2018) · Reproductive Medicine and Biology · doi:10.1002/rmb2.12252 · Cited by 20 · see citing works
Mitochondrial DNA and genetic disease
Krishnan, K. J., & Turnbull, D. M. (2010) · Essays in Biochemistry · doi:10.1042/bse0470139 · Cited by 19 · see citing works
Katada, S., Mito, T., Ogasawara, E., Hayashi, J., & Nakada, K. (2013) · G3 Genes Genomes Genetics · doi:10.1534/g3.113.007245 · Cited by 19 · see citing works
Trends in Mitochondrial Therapeutics for Neurological Disease
Leitão-Rocha, A., Guedes-Dias, P., Pinho, B. R., & Oliveira, J. M. A. (2015) · Current Medicinal Chemistry · doi:10.2174/0929867322666150209160317 · Cited by 19 · see citing works
Mitsui, A., Yoshizawa, M., Matsumoto, H., & Fukui, E. (2008) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-008-9282-6 · Cited by 19 · see citing works
Mitochondrial Genetic Drift after Nuclear Transfer in Oocytes
Yamada, M., Akashi, K., Ooka, R., Miyado, K., & Akutsu, H. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21165880 · Cited by 18 · see citing works
Subirá, J., Soriano, M., Castillo, L. M. D., & Santos, M. J. D. L. (2025) · Human Reproduction · doi:10.1093/humrep/deaf034 · Cited by 15 · see citing works
Qi, S., Wang, W., Xue, X., Zhuo, L., Yan, J., Li, Y., Zhang, Y., Shu, M., Song, C., Wang, Q., et al. (2022) · PLoS Biology · doi:10.1371/journal.pbio.3001741 · Cited by 17 · see citing works
Hayashi, J., Hashizume, O., Ishikawa, K., & Shimizu, A. (2016) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2016.03.004 · Cited by 17 · see citing works
Nuclear transfer to prevent maternal transmission of mitochondrial DNA disease
Poulton, J., & Oakeshott, P. (2012) · BMJ · doi:10.1136/bmj.e6651 · Cited by 17 · see citing works
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review