Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis
Open accessAbstract
BACKGROUND: Diseases arising from mitochondrial DNA (mtDNA) mutations are usually serious pleiotropic disorders with maternal inheritance. Owing to the high recurrence risk in the progeny of carrier females, "at-risk" couples often ask for prenatal diagnosis. However, reliability of such practices remains under debate. Preimplantation diagnosis (PGD), a theoretical alternative to conventional prenatal diagnosis, requires that the mutant load measured in a single cell from an eight cell embryo accurately reflects the overall heteroplasmy of the whole embryo, but this is not known to be the case. OBJECTIVE: To investigate the segregation of an mtDNA length polymorphism in blastomeres of 15 control embryos from four unrelated couples, the NARP mutation in blastomeres of three embryos from a carrier of this mutation. RESULTS: Variability of the mtDNA polymorphism heteroplasmy among blastomeres from each embryo was limited, ranging from zero to 19%, with a mean of 7%. PGD for the neurogenic ataxia retinitis pigmentosa (NARP) mtDNA mutation (8993T-->G) was therefore carried out in the carrier mother of an affected child. One of three embryos was shown to carry 100% of mutant mtDNA species while the remaining two were mutation-free. These two embryos were transferred, resulting in a singleton pregnancy with delivery of a healthy child. CONCLUSIONS: This PGD, the first reported for a mtDNA mutation, illustrates the skewed meiotic segregation of the NARP mtDNA mutation in early human development. However, discrepancies between the segregation patterns of the NARP mutation and the HV2 polymorphism indicate that a particular mtDNA nucleotide variant might differentially influenced the mtDNA segregation, precluding any assumption on feasibility of PGD for other mtDNA mutations.
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Preimplantation genetic diagnosis has only been successfully completed in one case of mtDNA disease.
“Despite its promise, PGD has only been successfully completed in one case of mtDNA disease [251].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [251]
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Cites
Genetic Counseling and Prenatal Diagnosis for the Mitochondrial DNA Mutations at Nucleotide 8993
White, S. L., Collins, V., Wolfe, R. S., Cleary, M., Shanske, S., DiMauro, S., Dahl, H. M., & Thorburn, D. R. (1999) · The American Journal of Human Genetics · doi:10.1086/302488 · Cited by 213 · see citing works
Random genetic drift determines the level of mutant mtDNA in human primary oocytes
Brown, D. T., Samuels, D. C., Michael, E. M., Turnbull, D. M., & Chinnery, P. F. (2001) · The American Journal of Human Genetics · doi:10.1086/318190 · Cited by 196 · see citing works
Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes
Blok, R. B., Gook, D. A., Thorburn, D. R., & Dahl, H. M. (1997) · The American Journal of Human Genetics · doi:10.1086/515453 · Cited by 174 · see citing works
Marchington, D. R., Hartshorne, G. M., Barlow, D., & Poulton, J. (1997) · Europe PMC (PubMed Central) · Cited by 155 · see citing works
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation
White, S. L., Shanske, S., McGill, J., Mountain, H., Geraghty, M. T., DiMauro, S., Dahl, H. ‐. M., & Thorburn, D. R. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005639407166 · Cited by 112 · see citing works
Chinnery, P. F. (1998) · Brain · doi:10.1093/brain/121.10.1889 · Cited by 108 · see citing works
Prenatal diagnosis of mitochondrial DNA8993 T----G disease.
Harding, A. E., Holt, I. J., Sweeney, M. G., Brockington, M., & Davis, M. B. (1992) · Europe PMC (PubMed Central) · Cited by 104 · see citing works
Genetic features of mitochondrial respiratory chain disorders
Rötig, A., & Munnich, A. (2003) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000095481.24091.c9 · Cited by 82 · see citing works
Poulton, J., & Turnbull, D. M. (2000) · Neuromuscular Disorders · doi:10.1016/s0960-8966(00)00101-2 · 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
Lin, D. P., Huang, C.-C., Wu, H.-M., Cheng, T., Chen, C.-I., & Lee, M. (2004) · Fertility and Sterility · doi:10.1016/j.fertnstert.2003.05.005 · Cited by 54 · see citing works
Ferlin, T., Landrieu, P., Rambaud, C., Fernandez, H., Dumoulin, R., Rustin, P., & Mousson, B. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)80074-1 · Cited by 46 · see citing works
Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome
Cammareri, V., Vignati, G., Nocera, G., Beck‐Peccoz, P., & Persani, L. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19990827)85:5 · Cited by 41 · see citing works
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA
Leshinsky‐Silver, E., Perach, M., Basilevsky, E., Hershkovitz, E., Yanoov‐Sharav, M., Lerman‐Sagie, T., & Lev, D. (2002) · Prenatal Diagnosis · doi:10.1002/pd.516 · Cited by 37 · see citing works
Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR
Gigarel, N., Ray, P. F., Burlet, P., Frydman, N., Royer, G., Lebon, S., Bonnefont, J., Frydman, R., Münnich, A., & Steffann, J. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.10.008 · Cited by 34 · see citing works
Self-citationQuantitative and qualitative profiling of mitochondrial DNA length heteroplasmy
Lee, H. Y., Chung, U., Yoo, J., Park, M. J., & Shin, K. (2004) · Electrophoresis · doi:10.1002/elps.200305681 · Cited by 33 · see citing works
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases
Dean, N. L. (2004) · Molecular Human Reproduction · doi:10.1093/molehr/gah085 · Cited by 7 · see citing works
White (1999) · doi:10.1002/(sici)1097-0223(199912)19:12
Flagged first, then by citations
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Research works printed but not linked: 1
- Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 1999;85:498-501.
Cited by
Sorted by citations
Gorman, G. S., Chinnery, P. F., DiMauro, S., Hirano, M., Koga, Y., McFarland, R., Suomalainen, A., Thorburn, D. R., Zeviani, M., & Turnbull, D. M. (2016) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2016.80 · Cited by 1,615 · see citing works
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
“Despite its promise, PGD has only been successfully completed in one case of mtDNA disease [251].”
BackgroundMitochondrial 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
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
Hyslop, L., Blakeley, P., Craven, L., Richardson, J. M., Fogarty, N. M. E., Fragouli, E., Lamb, M., Wamaitha, S. E., Prathalingam, N., Zhang, Q., et al. (2016) · Nature · doi:10.1038/nature18303 · Cited by 345 · see citing works
A neurological perspective on mitochondrial disease
McFarland, R., Taylor, R. W., & Turnbull, D. M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70116-2 · Cited by 315 · see citing works
Mitochondrial DNA and the Mammalian Oocyte
Shoubridge, E. A., & Wai, T. (2007) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(06)77004-1 · Cited by 281 · 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
Wells, D., Kaur, K., GRIFO, J. A., Glassner, M. J., Taylor, J. C., Fragouli, E., & Munné, S. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102497 · Cited by 257 · see citing works
Preimplantation genetic diagnosis: State of the ART 2011
Harper, J. C., & SenGupta, S. B. (2011) · Human Genetics · doi:10.1007/s00439-011-1056-z · Cited by 208 · 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
Lee, H.-S., Ma, H., Cervera‐Juanes, R. P., Tachibana, M., Sparman, M. L., Woodward, J., Ramsey, C. M., Xu, J., Kang, E.-J., Amato, P., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.03.011 · Cited by 152 · see citing works
Harton, G., Braude, P., Lashwood, A., Schmutzler, A. G., Traeger‐Synodinos, J., Wilton, L. J., & Harper, J. C. (2010) · Human Reproduction · doi:10.1093/humrep/deq229 · Cited by 149 · 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
Amato, P., Tachibana, M., Sparman, M. L., & Mitalipov, S. M. (2014) · Fertility and Sterility · doi:10.1016/j.fertnstert.2013.11.030 · Cited by 129 · see citing works
Fragouli, E. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-816561-4.00009-0 · Cited by 122 · see citing works
Therapeutic prospects for mitochondrial disease
Schon, E. A., DiMauro, S., Hirano, M., & Gilkerson, R. (2010) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2010.04.007 · Cited by 118 · 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
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system
Monnot, S., Gigarel, N., Samuels, D. C., Burlet, P., Hesters, L., Frydman, N., Frydman, R., Kerbrat, V., Funalot, B., Martinovic, J., et al. (2010) · Human Mutation · doi:10.1002/humu.21417 · Cited by 115 · see citing works
Self-citationAssisted reproductive technologies to prevent human mitochondrial disease transmission
Greenfield, A., Braude, P., Flinter, F. A., Lovell-Badge, R. H., Ogilvie, C. M., & Perry, A. C. F. (2017) · Nature Biotechnology · doi:10.1038/nbt.3997 · Cited by 111 · see citing works
Hellebrekers, D. M. E. I., Wolfe, R. S., Hendrickx, A. T. M., de Coo, I. F. M., de Die-Smulders, C. E. M., Geraedts, J. P. M., Chinnery, P. F., & Smeets, H. J. M. (2012) · Human Reproduction Update · doi:10.1093/humupd/dms008 · Cited by 107 · see citing works
Tissue specific distribution of the 3243A→G mtDNA mutation
Frederiksen, A. L., Andersen, P. H., Kyvik, K. O., Jeppesen, T. D., Vissing, J., & Schwartz, M. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.039339 · Cited by 100 · 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
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drüsedau, M., Spierts, S., Coonen, E., van Tienen, F. H. J., van Golde, R. J. T., de Coo, I. F. M., Geraedts, J. P. M., de Die-Smulders, C. E. M., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101172 · 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
Johnston, I. G., Burgstaller, J. P., Havlíček, V., Kolbe, T., Rülicke, T., Brem, G., Poulton, J., & Jones, N. S. (2015) · eLife · doi:10.7554/elife.07464 · Cited by 91 · 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
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells
Walker, M., Lareau, C. A., Ludwig, L. S., Karaa, A., Sankaran, V. G., Regev, A., & Mootha, V. K. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa2001265 · Cited by 87 · see citing works
Genetic and epigenetic risks of assisted reproduction
Jiang, Z.-R., Wang, Y., Lin, J., Xu, J.-J., Ding, G., & Huang, H. (2017) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2017.07.004 · Cited by 85 · see citing works
Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder
Treff, N. R., Campos, J., Tao, X., Levy, B., Ferry, K. M., & Scott, R. T. (2012) · Fertility and Sterility · doi:10.1016/j.fertnstert.2012.07.1119 · Cited by 84 · see citing works
Mitochondrial medicine: entering the era of treatment
Koene, S., & Smeitink, J. A. M. (2009) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2008.02058.x · Cited by 80 · 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
Disorders of mitochondrial function
Debray, F., Lambert, M. A., & Mitchell, G. A. (2008) · Current Opinion in Pediatrics · doi:10.1097/mop.0b013e328306ebb6 · Cited by 77 · see citing works
The Challenges of Mitochondrial Replacement
Chinnery, P. F., Craven, L., Mitalipov, S. M., Stewart, J. B., Herbert, M., & Turnbull, D. M. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004315 · Cited by 72 · 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
Smeets, H. J. M., Sallevelt, S. C. E. H., Dreesen, J. C. F. M., de Die-Smulders, C. E. M., & de Coo, I. F. M. (2015) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12866 · Cited by 70 · see citing works
Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases
Mitalipov, S. M., Amato, P., Parry, S. I., & Falk, M. J. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.05.004 · Cited by 69 · 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
Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line
Burr, S. P., Pezet, M. G., & Chinnery, P. F. (2018) · Development Growth & Differentiation · doi:10.1111/dgd.12420 · Cited by 63 · see citing works
Mitochondrial DNA disease and developmental implications for reproductive strategies
Burgstaller, J. P., Johnston, I. G., & Poulton, J. (2014) · Molecular Human Reproduction · doi:10.1093/molehr/gau090 · Cited by 62 · see citing works
Hens, K., Dondorp, W., & de Wert, G. M. W. R. (2015) · Human Reproduction · doi:10.1093/humrep/dev056 · Cited by 62 · see citing works
A national perspective on prenatal testing for mitochondrial disease
Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., & McFarland, R. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.35 · Cited by 62 · see citing works
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease
Hyslop, L., Blakely, E. L., Aushev, M., Marley, J. L., Takeda, Y., Pyle, A., Moody, E., Feeney, C. L., Dutton, J., Shaw, C., et al. (2025) · New England Journal of Medicine · doi:10.1056/nejmoa2415539 · Cited by 59 · see citing works
Steffann, J., Gigarel, N., Corcos, J., Bonnière, M., Encha‐Razavi, F., Sinico, M., Prevot, S., Dumez, Y., Yamgnane, A., Frydman, R., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.048553 · Cited by 56 · see citing works
Self-citationBredenoord, A. L., Pennings, G., Smeets, H. J. M., & de Wert, G. M. W. R. (2007) · Human Reproduction Update · doi:10.1093/humupd/dmm037 · Cited by 55 · see citing works
Cree, L. M., & Loi, P. (2014) · Molecular Human Reproduction · doi:10.1093/molehr/gau082 · Cited by 53 · see citing works
Preimplantation genetic diagnosis guided by single-cell genomics
der Aa, N. V., Esteki, M. Z., Vermeesch, J. R., & Voet, T. (2013) · Genome Medicine · doi:10.1186/gm475 · Cited by 51 · see citing works
Mutation-specific effects in germline transmission of pathogenic mtDNA variants
Otten, A. B. C., Sallevelt, S. C. E. H., Carling, P. J., Dreesen, J. C. F. M., Drüsedau, M., Spierts, S., Paulussen, A. D. C., de Die-Smulders, C. E. M., Herbert, M., Chinnery, P. F., et al. (2018) · Human Reproduction · doi:10.1093/humrep/dey114 · Cited by 50 · see citing works
PGD to reduce reproductive risk: the case of mitochondrial DNA disorders
Bredenoord, A. L., Dondorp, W., Pennings, G., de Die-Smulders, C. E. M., & de Wert, G. M. W. R. (2008) · Human Reproduction · doi:10.1093/humrep/den290 · Cited by 50 · 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
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 Donation in a Reproductive Care Pathway for mtDNA Disease
McFarland, R., Hyslop, L., Feeney, C. L., Pillai, R. N., Blakely, E. L., Moody, E., Prior, M., Devlin, A. M., Taylor, R. W., Herbert, M., et al. (2025) · New England Journal of Medicine · doi:10.1056/nejmoa2503658 · Cited by 40 · see citing works
Bredenoord, A. L., Dondorp, W., Pennings, G., de Die-Smulders, C. E. M., Smeets, H. J. M., & de Wert, G. M. W. R. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.88 · Cited by 40 · see citing works
Marchington, D., Malik, S., Banerjee, A., Turner, K., Samuels, D. C., Macaulay, V. A., Oakeshott, P., Fratter, C., Kennedy, S., & Poulton, J. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.072900 · Cited by 37 · see citing works
Feyereisen, E., Steffann, J., Romana, S. P., Lorc’h, M. L., Ray, P. F., Kerbrat, V., Tachdjian, G., Frydman, R., & Frydman, N. (2006) · Fertility and Sterility · doi:10.1016/j.fertnstert.2006.05.059 · Cited by 37 · see citing works
Self-citationClinical syndromes associated with mtDNA mutations: where we stand after 30 years
Carelli, V., & Morgia, C. L. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170097 · Cited by 34 · 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
Smeets, H. J. M. (2013) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2013.08.007 · Cited by 31 · see citing works
mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development
Steffann, J., Monnot, S., & Bonnefont, J. (2014) · Clinical Genetics · doi:10.1111/cge.12557 · Cited by 30 · see citing works
Self-citationHeindryckx, 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
Poulton, J., Steffann, J., Burgstaller, J. P., & McFarland, R. (2019) · Neuromuscular Disorders · doi:10.1016/j.nmd.2019.08.004 · Cited by 28 · see citing works
Self-citationExperimental 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
Tajima, H., Sueoka, K., Moon, S. Y., Nakabayashi, A., Sakurai, T., 村越, 行., Watanabe, H., Iwata, S., Hashiba, T., Kato, S., et al. (2007) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-007-9114-0 · Cited by 27 · see citing works
Data from Artificial Models of Mitochondrial DNA Disorders Are Not Always Applicable to Humans
Steffann, J., Gigarel, N., Samuels, D. C., Monnot, S., Borghèse, R., Hesters, L., Frydman, N., Burlet, P., Frydman, R., Benachi, A., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.05.005 · Cited by 27 · see citing works
Self-citationPreimplantation Genetic Testing: Indications and Controversies
Cooper, A. R., & Jungheim, E. S. (2010) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2010.04.008 · Cited by 26 · 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
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
Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Coonen, E., Paulussen, A. D. C., Hellebrekers, D. M. E. I., de Die-Smulders, C. E. M., Smeets, H. J. M., & Lindsey, P. J. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2017-104633 · Cited by 23 · see citing works
Mitochondrial genome and human mitochondrial diseases
Mazunin, I., Volodko, N. V., Starikovskaya, E. B., & Sukernik, R. I. (2010) · Molecular Biology · doi:10.1134/s0026893310050018 · Cited by 22 · 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
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
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy
Sallevelt, S. C. E. H., Dreesen, J. C. F. M., Drüsedau, M., Hellebrekers, D. M. E. I., Paulussen, A. D. C., Coonen, E., van Golde, R. J. T., Geraedts, J. P. M., Gianaroli, L., Magli, M. C., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew356 · Cited by 19 · 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
Bredenoord, A. L., Krumeich, A. J. S. M., Vries, M. D., Dondorp, W., & de Wert, G. M. W. R. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01312.x · Cited by 19 · see citing works
Advances in preimplantation genetic diagnosis/screening
Yan, L., Wei, Y., Huang, J., Zhu, X., Shi, X., Xia, X., Yan, J., Lu, C., Lian, Y., Li, R., et al. (2014) · Science China Life Sciences · doi:10.1007/s11427-014-4683-5 · Cited by 18 · see citing works
Vandewoestyne, M., Heindryckx, B., Gheselle, S. D., Lepez, T., Neupane, J., Gerris, J., Coster, R. V., Sutter, P. D., & Deforce, D. L. D. (2012) · Mitochondrion · doi:10.1016/j.mito.2012.04.002 · Cited by 18 · see citing works
Kuleva, M., Miled, S. B., Steffann, J., Bonnefont, J., Rondeau, S., Ville, Y. G., Münnich, A., & Salomon, L. J. (2018) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.15515 · Cited by 18 · see citing works
Self-citationSpäth, K., Babariya, D., Konstantinidis, M., Lowndes, J., Child, T. J., GRIFO, J. A., Poulton, J., & Wells, D. (2021) · Fertility and Sterility · doi:10.1016/j.fertnstert.2021.01.026 · Cited by 17 · see citing works
Genetic and reproductive strategies to prevent mitochondrial diseases
Castelluccio, N., Späth, K., Li, D., de Coo, I. F. M., Butterworth, L., Wells, D., Mertes, H., Poulton, J., & Heindryckx, B. (2025) · Human Reproduction Update · doi:10.1093/humupd/dmaf004 · Cited by 15 · see citing works
Preimplantation genetic diagnosis: recent triumphs and remaining challenges
SenGupta, S. B., & Delhanty, J. D. A. (2012) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.12.61 · Cited by 15 · see citing works
Mertens, J., Regin, M., Munck, N. D., de Deckersberg, E. C., Belva, F., Sermon, K., Tournaye, H. J., Blockeel, C., de Velde, H. V., & Spits, C. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac059 · Cited by 14 · see citing works
Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease
Herbert, M., & Turnbull, D. M. (2015) · EMBO Reports · doi:10.15252/embr.201540354 · Cited by 14 · see citing works
Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation
Vandewoestyne, M., Heindryckx, B., Lepez, T., Coster, R. V., Gerris, J., Sutter, P. D., & Deforce, D. L. D. (2011) · Mitochondrion · doi:10.1016/j.mito.2011.03.123 · Cited by 12 · see citing works
Lee, Y., & Kang, E. (2019) · BMB Reports · doi:10.5483/bmbrep.2019.52.8.141 · Cited by 10 · see citing works
Singling out genetic disorders and disease
Rycke, M. D. (2010) · Genome Medicine · doi:10.1186/gm195 · Cited by 10 · see citing works
Diagnostic prénatal et diagnostic pré-implantatoire : arbre décisionnel, nouvelles pratiques ?
Steffann, J., Feyereisen, E., Kerbrat, V., Romana, S. P., & Frydman, N. (2005) · médecine/sciences · doi:10.1051/medsci/20052111987 · Cited by 9 · see citing works
Self-citationRubens, P., Mayeur, A., Chatzovoulou, K., Gigarel, N., Monnot, S., Rötig, A., Münnich, A., Frydman, N., & Steffann, J. (2025) · Human Reproduction · doi:10.1093/humrep/deaf050 · Cited by 8 · see citing works
Self-citationShoubridge, E. A. (2009) · Nature · doi:10.1038/461354a · Cited by 8 · see citing works
Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France
Lamazou, F., Steffann, J., Frydman, N., Burlet, P., Gigarel, N., Romana, S. P., Bonnefont, J., Lorc’h, M. L., Hesters, L., Fanchin, R. R. F., et al. (2011) · Journal de gynécologie, obstétrique et biologie de la reproduction. Supplément/Journal de gynécologie obstétrique et biologie de la reproduction · doi:10.1016/j.jgyn.2011.08.007 · Cited by 8 · see citing works
Self-citationPraeter, C. D., Vanlander, A. V., Vanhaesebrouck, P., Smet, J., Seneca, S., Sutter, P. D., & Coster, R. V. (2014) · European Journal of Pediatrics · doi:10.1007/s00431-014-2370-y · Cited by 7 · see citing works
Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation
Ji, D., Li, X., Pan, J., Zong, K., Chen, D., Marley, J. L., Zou, W., Deng, X., Cao, Y., Zhang, Z., et al. (2021) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-021-02354-3 · Cited by 6 · see citing works
Mitochondrie et maturation ovocytaire
Steffann, J., & Fallet, C. (2010) · Journal de gynécologie, obstétrique et biologie de la reproduction. Supplément/Journal de gynécologie obstétrique et biologie de la reproduction · doi:10.1016/s0368-2315(10)70005-3 · Cited by 6 · see citing works
Self-citationReproductive Options for Women with Mitochondrial Disease
Craven, L., & Turnbull, D. M. (2019) · Springer eBooks · doi:10.1007/978-3-030-05517-2_23 · Cited by 6 · see citing works
Heredity and segregation of mtDNA
Burr, S. P., & Chinnery, P. F. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819656-4.00004-8 · Cited by 6 · see citing works
Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma
Ryall, C., Chinnery, P. F., & van den Ameele, J. (2026) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120324-032239 · Cited by 5 · see citing works
Replacing the cell's power plants
Shoubridge, E. A. (2016) · Nature · doi:10.1038/nature20483 · Cited by 5 · see citing works
Okamoto, R., Xiao, W., Fukasawa, H., Hirata, S., Sankai, T., Masuyama, H., & Otsuki, J. (2023) · Molecular Human Reproduction · doi:10.1093/molehr/gaad043 · Cited by 5 · see citing works
Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T>G
Pettman, R., Hurley, T., Addis, J., ROBINSON, B. J., Scott, H. M., & Kronick, J. B. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0460-y · Cited by 5 · see citing works
- Authors
- Steffann, J., Frydman, N., Gigarel, N., Burlet, P., Ray, P. F., Fanchin, R., Feyereisen, E., Kerbrat, V, Tachdjian, G., Bonnefont, J.-P., Frydman, R., & Munnich, A.
- Affiliations
- Hôpital Necker-Enfants Malades (FR)
- Hôpital Antoine-Béclère (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Corresponding author
- Steffann, J
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-09-09
- Volume
- 43
- Issue
- 3
- Pages
- 244-247
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC2563237
- OpenAlex
- W2113966347
- Cited by
- 145
- References
- 19
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 2 · 2023: 4 · 2022: 1 · 2021: 3 · 2020: 5 · 2019: 4 · 2018: 5 · 2017: 7 · 2016: 7 · 2015: 7 · 2014: 19 · 2013: 6 · 2012: 9
- FWCI
- 5.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- European Commission
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Keywords
- mitochondrial DNA, preimplantation genetic diagnosis, NARP, mitochondrial heteroplasmy, meiotic segregation, blastomeres, mitochondrial disease, maternal inheritance, embryo transfer
- MeSH terms
- DNA, Mitochondrial, Female, Humans, Pregnancy, Prenatal Diagnosis, Genetic Variation, Mitochondrial Diseases, Blastula, Embryonic Development
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