The DOI matches its Crossref record; 18 of the 19 references it cites were found in a registry or an index.
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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“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
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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
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
Marchington, D. R., Hartshorne, G. M., Barlow, D., & Poulton, J. (1997) · Europe PMC (PubMed Central) · Cited by 155
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
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Harding, A. E., Holt, I. J., Sweeney, M. G., Brockington, M., & Davis, M. B. (1992) · Europe PMC (PubMed Central) · Cited by 104
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
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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
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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 1,650
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
“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
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
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 350
Metadata
- 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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