Blood cell mitochondrial DNA content and premature ovarian aging

PLoS ONE

Volumn 7, Issue 8, 2012, Pages

  Bonomi, Marco ^a   Somigliana, Edgardo ^b   Cacciatore, Chiara ^a,c   Busnelli, Marta ^a   Rossetti, R ^d   Bonetti, Silvia ^b   Paffoni, Alessio ^b   Mari, Daniela ^c   Ragni, Guido ^b   Persani, Luca ^a,c   Arosio, M ^d   Beck Peccoz, P ^d   Biondi, M ^d   Bione, S ^d   Bruni, V ^d   Brigante, C ^d   Cannavo, Salvatore ^d   Cavallo, L ^d   Cisternino, M ^d   Colombo, I ^d   Corbetta, S ^d   Crosignani, P G ^d   D'Avanzo, M G ^d   Dalpra L ^d   Danesino, C ^d   Di Battista, E ^d   Di Prospero, F ^d   Donti, E ^d   Einaudi, S ^d   Falorni, A ^d   Foresta, C ^d   Fusi, F ^d   Garofalo, N ^d   Giotti, I ^d   Lanzi, R ^d   Larizza, D ^d   Locatelli, N ^d   Loli, P ^d   Madaschi, S ^d   Maghnie, M ^d   Maiore, S ^d   Mantero, F ^d   Marozzi, A ^d   Marzotti, S ^d   Migone, N ^d   Nappi, R ^d   Palli, D ^d   Patricelli, M G ^d   Pisani, C ^d   Prontera, P ^d   Petraglia, F ^d   Radetti, G ^d   Renieri, A ^d   Ricca, I ^d   Ripamonti, A ^d   Russo, G ^d   Russo, S ^d   Tonacchera, M ^d   Toniolo, D ^d   Torricelli, F ^d   Vegetti, W ^d   Villa, N ^d   Vineis, P ^d   Wasniewsk, M ^d   Zuffardi, O ^d   more..

^a NATIONAL CANCER INSTITUTE   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

ADULT; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DNA CONTENT; FEMALE; FERTILIZATION IN VITRO; GENE; GENE DOSAGE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MENOPAUSE; MITOCHONDRIAL DNA DEPLETION SYNDROME; OVARIAN RESERVE; OVARY HYPERSTIMULATION; PERIPHERAL BLOOD MONONUCLEAR CELL; POLG GENE; PREDICTION; PREMATURE OVARIAN FAILURE; TREATMENT RESPONSE;

EID: 84864555458     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0042423     Document Type: Article

References (45)

1. Welt CK, ((2008)) Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf) 68:: 499--509.
2. Nelson LM, ((2009)) Clinical practice. Primary ovarian insufficiency. N Engl J Med 360:: 606--614.
3. Simpson JL, ((2008)) Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes. Ann N Y Acad Sci 1135:: 146--154.
4. Persani L, Rossetti R, Cacciatore C, ((2010)) The genes involved in human premature ovarian failure. J Mol Endocrinol 45:: 257--279.
5. Vegetti W, Marozzi A, Manfredini E, Testa G, Alagna F, et al. ((2000)) Premature ovarian failure. Mol Cell Endocrinol 161:: 53--57.
6. Davies CJ, Davison RM, Payne NN, Rodeck CH, Conway GS, ((2000)) Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect. Hum Reprod 15:: 2418--2422.
7. Rizzolio F, Pramparo T, Sala C, Zuffardi O, Desantis L, et al. ((2009)) Epigenetic analysis of the Critical Region I for Premature Ovarian Failure (POF): demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome. J Med Genet 46:: 585--592.
8. Persani L, Rossetti R, Cacciatore C, Bonomi M, ((2009)) Primary ovarian insufficiency: X chromosome defects and autoimmunity. J Autoimmun 33:: 35--41.
9. Pang CY, Ma YS, Wei YU, ((2008)) MtDNA mutations, functional decline and turnover of mitochondria in aging. Front Biosci 13:: 3661--3675.
10. Johannsen DL, Ravussin E, ((2009)) The role of mitochondria in health and disease. Curr Opinion Pharmacol 9:: 780--786.
11. van Blerkom J, Davis PW, Lee J, ((1995)) ATP content of human oocytes and developmental potential and outcome after in-vitro fertilization and embryo transfer. Hum Reprod 10:: 415--424.
12. Dumollard R, Duchen M, Carroll J, ((2007)) The role of mitochondrial function in the oocyte and embryo. Curr Top Dev Biol 77:: 21--49.
13. May-Panloup P, Chretien MF, Malthiery Y, Reynier P, ((2007)) Mitochondrial DNA in the oocyte and the developing embryo. Curr Top Dev Biol 77:: 51--83.
14. Wai T, Ao A, Zhang X, Cyr D, Dufort D, et al. ((2010)) The role of mitochondrial DNA copy number in mammalian fertility. Biol Reprod 83:: 52--62.
15. Santos TA, El Shourbagy S, St John JC, ((2006)) Mitochondrial content reflects oocyte variability and fertilization outcome. Fertil Steril 85:: 584--591.
16. May-Panloup P, Chrétien MF, Jacques C, Vasseur C, Malthièry Y, et al. ((2005)) Low oocyte mitochondrial DNA content in ovarian insufficiency. Hum Reprod 20:: 593--597.
17. Tatone C, Carbone MC, Falone S, Aimola P, Giardinelli A, et al. ((2006)) Age-dependent changes in the expression of superoxide dismutases and catalase are associated with ultrastructural modifications in human granulosa cells. Mol Hum Reprod 12:: 655--660.
18. Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, et al. ((2004)) Premature aging in mice expressing defective mitochondrial DNA polymerase. Nature 429:: 417--423.
19. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, et al. ((2004)) Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364:: 875--882.
20. Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, et al. ((2005)) Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science 309:: 481--484.
21. Pagnamenta AT, Taanman JW, Wilson CJ. Anderson NE, Marotta R, et al. ((2006)) Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod 21:: 2467--2473.
22. Broekmans FJ, Kwee J, Hendriks DJ, Mol BW, Lambalk CB, ((2006)) A systematic review of tests predicting ovarian reserve and IVF outcome. Hum Reprod Update 12:: 685--718.
23. Rossetti R, Di Pasquale E, Marozzi A, Bione S, Toniolo D, et al. ((2009)) BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Hum Mutat 30:: 804--810.
24. Trinei M, Berniakovich I, Pelicci PG, Giorgio M, ((2006)) Mitochondrial DNA copy number is regulated by cellular proliferation: a role for Ras and p66(Shc). Biochim Biophys Acta 1757:: 624--630.
25. Pfaffl MW, ((2001)) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29:: e45.
26. Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C, ((2001)) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28:: 211--2.
27. Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, et al. ((2007)) Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol. 64:: 553--7.
28. Tong ZB, Sullivan SD, Lawless LM, Vanderhoof V, Zachman K, et al. ((2010)) Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46, XX primary ovarian insufficiency. Fertil Steril. 94:: 2932--4.
29. Cree LM, Patel SK, Pyle A, Lynn S, Turnbull DM, et al. ((2008)) Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets. Diabetologia 51:: 1440--1443.
30. Short KR, Bigelow ML, Kahl J, Singh R, Coenen-Schimke J, et al. ((2005)) Decline in skeletal muscle mitochondrial function with aging in humans. Proc Natl Acad Sci 102:: 5618--5623.
31. Menshikova EV, Ritov VB, Fairfull L, Ferrell RE, Kelley DE, et al. ((2006)) Effects of exercise on mitochondrial content and function in aging human skeletal muscle. J Gerontol A Biol Sci Med Sci 61:: 534--540.
32. Schapira AH, ((2006)) Mitochondrial disease. Lancet 368:: 70--82.
33. Spikings EC, Alderson J, John JC, ((2007)) Regulated mitochondrial DNA replication during oocyte maturation is essential for successful porcine embryonic development. Biol Reprod 76:: 327--735.
34. Jansen RP, de Boer K, ((1998)) The bottleneck: mitochondrial imperatives in oogenesis and ovarian follicular fate. Mol Cell Endocrinol 145:: 81--88.
35. Shoubridge EA, Wai T, ((2007)) Mitochondrial DNA and the mammalian oocyte. Curr Top Dev Biol 77:: 87--111.
36. Boland NI, Humpherson PG, Leese HJ, Gosden RG, ((1993)) Pattern of lactate production and steroidogenesis during growth and maturation of mouse ovarian follicles in vitro. Biol Reprod 48:: 798--806.
37. Wycherley G, Kane MT, Hynes AC, ((2005)) Oxidative phosphorylation and the tricarboxylic acid cycle are essential for normal development of mouse ovarian follicles. Hum Reprod 20:: 2757--2763.
38. Harris SE, Leese HJ, Gosden RG, Picton HM, ((2009)) Pyruvate and oxygen consumption throughout the growth and development of murine oocytes. Mol Reprod Dev 76:: 231--238.
39. Perls TT, Alpert L, Fretts RC, ((1997)) Middle-aged mothers live longer. Nature 389:: 133.
40. Gagnon A, Smith KR, Tremblay M, Vézina H, Paré PP, et al. ((2009)) Is there a trade-off between fertility and longevity? A comparative study of women from three large historical databases accounting for mortality selection. Am J Hum Biol. 21:: 533--540.
41. Smith KR, Gagnon A, Cawthon RM, Mineau GP, Mazan R, et al. ((2009)) Familial aggregation of survival and late female reproduction. J Gerontol A Biol Sci Med Sci 64:: 740--4.
42. Hutchinson EW, Shaw AJ, Rose MR, ((1991)) Quantitative genetics of postponed aging in Drosophila melanogaster. II. Analysis of selected lines. Genetics 127:: 729--737.
43. Farhi J, Homburg R, Ferber A, Orvieto R, Ben Rafael Z, ((1997)) Non-response to ovarian stimulation in normogonadotrophic, normogonadal women: a clinical sign of impending onset of ovarian failure pre-empting the rise in basal follicle stimulating hormone levels. Hum Reprod 12:: 241--243.
44. De Boer EJ, den Tonkelaar I, te Velde ER, Burger CW, van Leeuwen FE, et al. ((2003)) Increased risk of early menopausal transition and natural menopause after poor response at first IVF treatment. Hum Reprod 18:: 1544--1552.
45. Lawson R, El-Toukhy T, Kassab A, Taylor A, Braude P, et al. ((2003)) Poor response to ovulation induction is a stronger predictor of early menopause than elevated basal FSH: a life table analysis. Hum Reprod 18:: 527--533.