ГЕНЫ, СВЯЗАННЫЕ С ПРЕЖДЕВРЕМЕННЫМ ИСТОЩЕНИЕМ ЯИЧНИКОВ

Шепель Е. А., Блашкив Т. В., Вознесенская Т. Ю., Грушка Н. Г., Янчий Р. И.

ОБЗОРЫ ЛИТЕРАТУРЫ

Научная статья.

Проблемы, связанные с преждевременной недостаточностью яичников могут ограничить успех экстракорпорального оплодотворения, к которому прибегают пары, страдающие бесплодием. Исследование экспрессии генов в кумулюсных клетках могло бы стать надежной моделью для определения потенциала развития ооцитов и эффективности протокола гиперстимуляции яичников, а также оценить развитие эмбриона и исход беременности. Поэтому актуальным является анализ данных литературы относительно ключевых генов, связанных с преждевременным истощением яичников у человека.

ген, преждевременное истощение яичников

1. Aboura A. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure / A. Aboura, C. Dupas, G. Tachdjian, M. F. Portnoi [et al] // J. Clin. Endocrinol. Metab. - 2009. - Vol. 94(11). - P. 4540-4546.
2. Ahonen P. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients / P. Ahonen, S. Myllarniemi, I. Sipila, J. Perheentupa // N. Engl. J. Med. - 1990. - Vol. 322(26). - P. 1829-1836.
3. Borgstrom B. Fertility preservation in girls with turner syndrome: prognostic signs of the presence of ovarian follicles / B. Borgstrom, J. Hreinsson, C. Rasmussen [et al] // J. Clin. Endocrinol. Metab. - 2009. - Vol. 94(1). - P. 74-80.
4. Broekmans F. J. Ovarian ageing: mechanisms and clinical consequences / F J. Broekmans, M. R. Soules, B. C. Fauser // Endocrinol. Rev. - 2009. - Vol. 30 (5). - P. 465-493.
5. De Baere E. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation / E. de Baere, M. J. Dixon, K. W. Small [et al.] // Hum. Mol. Genet. - 2001. -Vol. 10 (15). - P. 1591-1600.
6. De Vos M. Primary ovarian insufficiency / M. De Vos, P. Devroey, B. C. Fauser // Lancet. -2010. - Vol. 376 (9744). - P. 911-21.
7. Di Pasquale E. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene / E. Di Pasquale, P. Beck-Peccoz, L. Persani // Am. J. Hum. Genet. - 2004. - Vol. 75 (1). - P. 106-111.
8. Ennis S. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers / S. Ennis, D. Ward, A. Murray // Eur. J. Hum. Genet. - 2006. - Vol. 14 (2). - P. 253-255.
9. Farhi J. 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 / J. Farhi, R. Homburg, A. Ferber [et al.] // Hum. Reprod. - 1997. - Vol. 12 (2). - P. 241-243.
10. Galloway S. M. Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner / S. M. Galloway, K. P McNatty, L. M. Cambridge [et al.] // Nat. Genet. - 2000. - Vol. 25 (3). -P 279-283.
11. Gilchrist R. B. Oocyte-secreted factors: regulators of cumulus cell function and oocyte quality / R. B. Gilchrist, M. Lane, J. G. Thompson // Hum. Reprod. Update. - 2008. - Vol. 14 (2). - P 159-177.
12. Gosden R. G. Biological bases of premature ovarian failure / R. G. Gosden, M. J. Faddy // Reprod. Fertil. Dev. - 1998. -Vol. 10 (1). - P 73-78.
13. Gosden R. G. Ovarian aging, follicular depletion, and steroidogenesis / R. G. Gosden, M. J. Faddy // Exp. Gerontol. - 1994. -Vol. 29 (3-4). - P 265-274.
14. Goswami D. Premature ovarian failure / D. Goswami, G. S. Conway // Hum. Reprod. Update. - 2005. - Vol. 11 (4). - P 391410.
15. Peng J. Growth differentiation factor 9: bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions / J. Peng, Q. Li, K. Wigglesworth [et al.] // Proc. Natl. Acad. Sci. U S A. - 2013. - Vol. 110 (8). - P E776-785.
16. Harris S. E. Identification of novel mutations in FOXL2 associated with premature ovarian failure / S. E. Harris, A. L. Chand,I. M. Winship // Mol. Hum. Reprod. - 2002. - Vol. 8 (8). - P 729-733.
17. Knauff E. A. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene / E. A. Knauff, L. Franke, van Es MA [et al.] // Hum. Reprod. - 2009. - Vol. 24 (9). - P 2372-2378.
18. Laissue P Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure / P. Laissue,S. Christin-Maitre, P. Touraine // Eur. J. Endocrinol. - 2006. - Vol. 154 (5). - P. 739-744.
19. Layman L. C. Editorial: BMP15-the first true ovarian determinant gene on the X-chromosome? / L. C. Layman // J. Clin. Endocrinol. Metab. - 2006. - Vol. 91 (5). - P 1673-1676.
20. Lourenco D. Mutations in NR5A1 associated with ovarian insufficiency / D. Lourenco, R. Brauner, L. Lin [et al.] // N. Engl.J. Med. - 2009. - Vol. 360 (12). - P 1200-1210.
21. Mendelson C. R. Mechanisms in the regulation of aromatase in developing ovary and placenta / C. R. Mendelson, A. Kamat // J. Steroid. Biochem. Mol. Biol. - 2007. - Vol. 106 (1-5). - P 62-70.
22. Murabito J. M. Genome-wide linkage analysis to age at natural menopause in a community-based sample: the Framingham Heart Study / J. M. Murabito, Q. Yang, C. S. Fox, L. A. Cupples // Fertil. Steril. - 2005. - Vol. 84 (6). - P 1674-1679.
23. Murray A. Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study / A. Murray, C. E. Bennett, J. R. Perry [et al.] // Hum. Mol. Genet. - 2011. - Vol. 20 (1). - P 186-192.
24. Murray A. Microdeletions in FMR2 may be a significant cause of premature ovarian failure / A. Murray, J. Webb, N. Dennis [et al.] // J. Med. Genet. - 1999. - Vol. 36 (10). - P 767-770.
25. Oldenburg R. A. A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus / R. A. Oldenburg, M. F van Dooren, B. de Graaf [et al.] // Hum. Reprod. - 2008. - Vol. 23(12). - P 2835-2841.
26. Peng J. Growth differentiation factor 9:bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions / J. Peng, Q. Li, K. Wigglesworth [et al.] // Proc. Natl. Acad. Sci. U S A. - 2013. - Vol. 110 (8). - P E776-785.
27. Perez G. I. Absence of the proapoptotic Bax protein extends fertility and alleviates age-related health complications in female mice / G. I. Perez, A. Jurisicova, L. Wise [et al.] // Proc. Natl. Acad. Sci. USA. - 2007. - Vol. 104 (12). - P 229-234.
28. Rocca W. A. Increased risk of parkinsonism in women who underwent oophorectomy before menopause / W. A. Rocca, J. H. Bower, D. M. Maraganore [et al.] // Neurology. - 2008. - Vol. 70 (3). - P 200-209.
29. Snieder H. Genes control the cessation of a woman’s reproductive life: a twin study of hysterectomy and age at menopause. / H. Snieder, A. J. MacGregor, T. D. Spector // J. Clin. Endocrinol. Metab. - 1998. - Vol. 83 (6). - P 1875-1880.
30. Torgerson D. J. Mothers and daughters menopausal ages: is there a link? / D. J. Torgerson, R. E. Thomas, D. M. Reid // Eur. J. Obstet. Gynecol. Reprod. Biol. - 1997. - Vol. 74 (1). - P 63-66.
31. Uda M. Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development / M. Uda, C. Ottolenghi, L. Crisponi [et al.] // Hum. Mol. Genet. - 2004. - Vol. 13 (11). - P 1171-1181.
32. Verberg MF. Mild ovarian stimulation for IVF / M. F. Verberg, N. S. Macklon, G. Nargund [et al.] // Hum. Reprod. Update. -2009. - Vol. 15 (1). - P. 13-29.
33. Voorhuis M. Human studies on genetics of the age at natural menopause: a systematic review / M. Voorhuis, N. C. Onland-Moret, Y T. van der Schouw [et al.] // Hum. Reprod. Update. - 2010. - Vol. 16 (4). - P 364-377.
34. Weck J. Switching of NR5A proteins associated with the inhibin alpha-subunit gene promoter after activation of the gene in granulosa cells / J. Weck, K. E. Mayo // Mol. Endocrinol. - 2006. - Vol. 20 (5). - P 1090-1103.
35. Welt C. K. Evidence of early ovarian aging in fragile X premutation carriers / C. K. Welt, P C. Smith, A. E. Taylor // J. Clin. Endocrinol. Metab. - 2004. - Vol. 89 (9). - P 4569-4574.
36. Wittenberger M. D. The FMR1 premutation and reproduction / M. D. Wittenberger, R. J. Hagerman, S. L. Sherman [et al.] // Fertil Steril. - 2007. - Vol. 87 (3). - P 456-465.

«Вестник проблем биологии и медицины» Выпуск 2 Том 1 (118), 2015 год, 58-62 страницы, код УДК 517. 218:616-008. 64:612. 621