Атлас ПГТ-мт

Основы ПГТ-мт

Библиография

Публикации, которые цитируются в главах раздела

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  2. Andrews RM, Kubacka I, Chinnery PF, et al. (1999). Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147. doi:10.1038/13779 · PMID 10508508 · Главы: 1
  3. Arbeithuber B, Anthony K, Higgins B, et al. (2025). Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations. Sci Adv 11:eadw4954. doi:10.1126/sciadv.adw4954 · PMID 40768572 · Главы: 1, 3
  4. Bi C, Wang L, Fan Y, et al. (2023). Quantitative haplotype-resolved analysis of mitochondrial DNA heteroplasmy in human single oocytes, blastoids, and pluripotent stem cells. Nucleic Acids Res 51:3793–3805. doi:10.1093/nar/gkad209 · PMID 37014011 · Главы: 1
  5. Bredenoord A, Dondorp W, Pennings G, et al. (2009). Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice. Eur J Hum Genet 17:1550–1559. doi:10.1038/ejhg.2009.88 · PMID 19471315 · Главы: 5
  6. Burr SP, Chinnery PF (2024). Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease. Hum Mol Genet 33(R1):R3–R11. doi:10.1093/hmg/ddae059 · PMID 38779777 · Главы: 1, 2, 6
  7. Castelluccio N, Spath K, Li D, et al. (2025). Genetic and reproductive strategies to prevent mitochondrial diseases. Hum Reprod Update 31:269–306. doi:10.1093/humupd/dmaf004 · PMID 40085924 · Главы: 1, 5, 6
  8. Chinnery PF, Thorburn DR, Samuels DC, et al. (2000). The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?. Trends Genet 16:500–505. doi:10.1016/S0168-9525(00)02120-X · PMID 11074292 · Главы: 1, 2, 3
  9. Cree LM, Samuels DC, de Sousa Lopes SC, et al. (2008). A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nat Genet 40:249–254. doi:10.1038/ng.2007.63 · PMID 18223651 · Главы: 3
  10. Facucho-Oliveira JM, St John JC (2009). The relationship between pluripotency and mitochondrial DNA proliferation during early embryo development and embryonic stem cell differentiation. Stem Cell Rev Rep 5:140–158. doi:10.1007/s12015-009-9058-0 · PMID 19521804 · Главы: 1, 4
  11. Floros VI, Pyle A, Dietmann S, et al. (2018). Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos. Nat Cell Biol 20:144–151. doi:10.1038/s41556-017-0017-8 · PMID 29335530 · Главы: 1, 3
  12. Franco M, Fleischmann Z, Annis S, et al. (2026). Positive germline selection of mtDNA: evidence from the oocyte. bioRxiv (preprint, not peer reviewed). doi:10.64898/2025.12.31.697248 препринт, не прошёл рецензирование · Главы: 3
  13. Gorman GS, Chinnery PF, DiMauro S, et al. (2016). Mitochondrial diseases. Nat Rev Dis Primers 2:16080. doi:10.1038/nrdp.2016.80 · PMID 27775730 · Главы: 1, 2
  14. Gorman GS, Schaefer AM, Ng Y, et al. (2015). Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol 77:753–759. doi:10.1002/ana.24362 · PMID 25652200 · Главы: 1
  15. Gupta R, Kanai M, Durham TJ, et al. (2023). Nuclear genetic control of mtDNA copy number and heteroplasmy in humans. Nature 620:839–848. doi:10.1038/s41586-023-06426-5 · PMID 37587338 · Главы: 1
  16. Hanson BM, Seli E (2021). Preimplantation genetic testing to evaluate for mitochondrial deoxyribonucleic acid disease and aneuploidy: a two-birds-with-one-stone approach. Fertil Steril 115:1439–1440. doi:10.1016/j.fertnstert.2021.03.006 · PMID 33795137 · Главы: 5
  17. Heindryckx B, Neupane J, Vandewoestyne M, et al. (2014). Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis. Mitochondrion 18:12–17. doi:10.1016/j.mito.2014.08.005 · PMID 25159128 · Главы: 6
  18. Hellebrekers DMEI, Wolfe R, Hendrickx ATM, et al. (2012). PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update 18:341–349. doi:10.1093/humupd/dms008 · PMID 22456975 · Главы: 2, 3, 6
  19. Hu X, Zhang Y, Wan Z, et al. (2026). Successful live birth after preimplantation genetic testing for combined nuclear RNASEH2C and mitochondrial MT-TL1 variants. J Assist Reprod Genet. doi:10.1007/s10815-026-04041-7 · PMID 42821212 · Главы: 4, 5, 6
  20. Hyslop LA, Blakely EL, Aushev M, et al. (2025). Mitochondrial donation and preimplantation genetic testing for mtDNA disease. N Engl J Med 393:438–449. doi:10.1056/NEJMoa2415539 · PMID 40673696 · Главы: 2, 3, 4, 5, 6
  21. Iliushchenko D, Efimenko B, Mikhailova AG, et al. (2025). Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes. Mol Biol Evol 42(2):msae261. doi:10.1093/molbev/msae261 · PMID 39903101 · Главы: 1
  22. Janssen AEJ, Koeck RM, Essers R, et al. (2024). Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. Nat Commun 15:7164. doi:10.1038/s41467-024-51508-1 · PMID 39223156 · Главы: 2, 4, 5
  23. Ji D, Li X, Pan J, et al. (2021). Preimplantation genetic diagnosis for a carrier with m.3697G>A mitochondrial DNA mutation. J Assist Reprod Genet 38:3251–3260. doi:10.1007/s10815-021-02354-3 · PMID 34802141 · Главы: 6
  24. Ji D, Zhang N, Zou W, et al. (2023). Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success. J Assist Reprod Genet 40:2185–2196. doi:10.1007/s10815-023-02880-2 · PMID 37439868 · Главы: 2, 3, 5, 6
  25. Luo S, Valencia CA, Zhang J, et al. (2018). Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci USA 115:13039–13044. doi:10.1073/pnas.1810946115 · PMID 30478036 · Главы: 1
  26. Mavraki E, Labrum R, Sergeant K, et al. (2023). Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. Eur J Hum Genet 31:148–163. doi:10.1038/s41431-022-01249-w · PMID 36513735 · Главы: 1, 2, 5, 6
  27. Mayeur A, Benaloun E, Benguigui J, et al. (2023). Preimplantation genetic testing for mitochondrial DNA mutation: ovarian response to stimulation, outcomes and follow-up. Reprod Biomed Online 47:61–69. doi:10.1016/j.rbmo.2023.02.010 · PMID 37202317 · Главы: 5
  28. McFarland R, Hyslop LA, Feeney C, et al. (2025). Mitochondrial donation in a reproductive care pathway for mtDNA disease. N Engl J Med 393:461–468. doi:10.1056/NEJMoa2503658 · PMID 40689593 · Главы: 5
  29. Mertens J, Regin M, De Munck N, et al. (2022). Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally. Hum Mol Genet 31:3629–3642. doi:10.1093/hmg/ddac059 · PMID 35285472 · Главы: 1, 2, 4
  30. Mihalas BP, Marston AL, Wu LE, Gilchrist RB (2024). Reproductive Ageing: Metabolic contribution to age-related chromosome missegregation in mammalian oocytes. Reproduction 168:e230510. doi:10.1530/REP-23-0510 · PMID 38718822 · Главы: 6
  31. Mitalipov S, Amato P, Parry S, Falk MJ (2014). Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases. Cell Rep 7:935–937. doi:10.1016/j.celrep.2014.05.004 · PMID 24856294 · Главы: 2, 5, 6
  32. Mizuguchi Y, Sueoka K, Sato S, Tanaka M (2025). Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A. Hum Genome Var 12:7. doi:10.1038/s41439-025-00311-5 · PMID 40164591 · Главы: 2, 5
  33. Monnot S, Gigarel N, Samuels DC, et al. (2011). Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum Mutat 32:116–125. doi:10.1002/humu.21417 · PMID 21120938 · Главы: 1, 4, 6
  34. Ng YS, Bindoff LA, Gorman GS, et al. (2021). Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol 20:573–584. doi:10.1016/S1474-4422(21)00098-3 · PMID 34146515 · Главы: 1
  35. Otten ABC, Sallevelt SCEH, Carling PJ, et al. (2018). Mutation-specific effects in germline transmission of pathogenic mtDNA variants. Hum Reprod 33:1331–1341. doi:10.1093/humrep/dey114 · PMID 29850888 · Главы: 2, 3
  36. Pickett SJ, Blain A, Ng YS, et al. (2019). Mitochondrial donation — which women could benefit?. N Engl J Med 380:1971–1972. doi:10.1056/NEJMc1808565 · PMID 31091381 · Главы: 5, 6
  37. Rossignol R, Faustin B, Rocher C, et al. (2003). Mitochondrial threshold effects. Biochem J 370:751–762. doi:10.1042/BJ20021594 · PMID 12467494 · Главы: 2
  38. Ru Y, Deng X, Chen J, et al. (2024). Maternal age enhances purifying selection on pathogenic mutations in complex I genes of mammalian mtDNA. Nat Aging 4:1211–1230. doi:10.1038/s43587-024-00672-6 · PMID 39075271 · Главы: 3
  39. Rubens P, Mayeur A, Chatzovoulou K, et al. (2025). Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders. Hum Reprod 40:956–961. doi:10.1093/humrep/deaf050 · PMID 40174913 · Главы: 1, 2, 4, 5
  40. Sallevelt SCEH, Dreesen JCFM, Coonen E, et al. (2017a). Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices. J Med Genet 54:693–697. doi:10.1136/jmedgenet-2017-104633 · PMID 28668821 · Главы: 4
  41. Sallevelt SCEH, Dreesen JCFM, Drüsedau M, et al. (2017b). PGD for the m.14487T>C mitochondrial DNA mutation resulted in the birth of a healthy boy. Hum Reprod 32:698–703. doi:10.1093/humrep/dew356 · PMID 28122886 · Главы: 4, 6
  42. Smeets HJM, Sallevelt SCEH, Herbert M (2023). Reproductive options in mitochondrial disease. Handb Clin Neurol 194:207–228. doi:10.1016/B978-0-12-821751-1.00004-X · PMID 36813314 · Главы: 1, 3, 5, 6
  43. Spath K, Babariya D, Konstantinidis M, et al. (2021). Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy. Fertil Steril 115:1521–1532. doi:10.1016/j.fertnstert.2021.01.026 · PMID 33745725 · Главы: 2, 3, 4, 5, 6
  44. Steffann J (2025). Advances in preventing transmission of mitochondrial DNA diseases. N Engl J Med 393:503–507. doi:10.1056/NEJMe2507755 · PMID 40673570 · Главы: 5
  45. Steffann J, Frydman N, Gigarel N, et al. (2006). Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet 43:244–247. doi:10.1136/jmg.2005.032326 · PMID 16155197 · Главы: 6
  46. Steffann J, Gigarel N, Samuels DC, et al. (2014). Data from artificial models of mitochondrial DNA disorders are not always applicable to humans. Cell Rep 7:933–934. doi:10.1016/j.celrep.2014.05.005 · PMID 24856293 · Главы: 2, 6
  47. Steffann J, Monnot S, Magen M, et al. (2021). A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders. Genet Med 23:720–731. doi:10.1038/s41436-020-01043-3 · PMID 33303968 · Главы: 5
  48. Stewart JB, Chinnery PF (2015). The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nat Rev Genet 16:530–542. doi:10.1038/nrg3966 · PMID 26281784 · Главы: 1, 2, 3, 6
  49. Tajima H, Sueoka K, Moon SY, et al. (2007). The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy. J Assist Reprod Genet 24:227–232. doi:10.1007/s10815-007-9114-0 · PMID 17342424 · Главы: 2, 4
  50. Tofilo M, Volodyaev I, Tretiakov E, et al. (2026). Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C. J Assist Reprod Genet. doi:10.1007/s10815-026-04012-y · PMID 42649365 · Главы: 4, 5, 6
  51. Treff NR, Campos J, Tao X, et al. (2012). Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril 98:1236–1240. doi:10.1016/j.fertnstert.2012.07.1119 · PMID 22921075 · Главы: 2, 3, 4, 6
  52. Tytgat O, Tang MX, van Snippenberg W, et al. (2021). Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for in vitro fertilization. Clin Chem 67:968–976. doi:10.1093/clinchem/hvab021 · PMID 33822904 · Главы: 2, 5
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