РОЛЬ ГЕНЕТИЧЕСКИХ ФАКТОРОВ, СИСТЕМЫ ДЕТОКСИКАЦИИ И ОКСИДАТИВНОГО СТРЕССА ПРИ ЭНДОМЕТРИОЗЕ И БЕСПЛОДИИ (ОБЗОР ЛИТЕРАТУРЫ)

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Целью работы был обзор литературных данных, связанных с изучением роли генетических факторов, системы детоксикации и оксидативного стресса в патогенезе эндометриоза и бесплодия, которые остаются одними из самых неизученных заболеваний в гинекологии. Взаимосвязь между полиморфизмом генов и различными заболеваниями доказана уже давно. В зарубежных исследованиях подтверждены факты наличия полиморфизма генов при поликистозе яичников, эндометриозе, миоме матки, раке яичников и шейки матки, преждевременном истощении яичников, привычном невынашивании и преэклампсии. Существенным доказательством наличия специфического полиморфизма при эндометриозе с позиций доказательной медицины являются нарушения в системе генов второй фазы детоксикации. В зарубежной литературе представлены исследования, подтверждающие наличие генетических причин при формировании мужских факторов бесплодия. Генетические аспекты женского бесплодия как заболевания не изучены. Роль оксидативного стресса при эндометриозе доказана на основании изучения специфических маркеров. Оксидантный-антиоксидантный статус и активность ферментов, метаболизирующих ксенобиотики, взаимосвязаны и могут меняться в зависимости от воздействия факторов внешней среды. Анализ литературных данных демонстрирует, что развитие эндометриоза и бесплодия предопределяется генетически. Немаловажную роль при этом играют факторы внешней среды и уровень эндогенной интоксикации, определяемый в т.ч. скоростью метаболизма ксенобиотиков. Изменение баланса оксидантной-антиоксидантной системы на системном и локальном уровне приводят к нарушениям функций женской репродуктивной системы (снижение фертильности).

 

Об авторах

Е. Д. Дубинская

Российский университет дружбы народов, Москва, Российская Федерация

Email: eka-dubinskaya@yandex.ru
PhD, associate professor of the Department of Obstetrics, Gynecology and Reproductive Medicine, Faculty of Postgraduate Education, People's Friendship University of Russia Address: 117198, Moscow, Miklukho-Maklaya St., 8; tel.: (495) 434-10-60 Россия

А. С. Гаспаров

Российский университет дружбы народов, Москва, Российская Федерация

Автор, ответственный за переписку.
Email: 7767778@mail.ru
PhD, professor, member of RANS, Head of Department of Plastic and Reconstructive Surgery and Reproductive Medicine, Department of Obstetrics, Gynecology and Reproductive Medicine, Faculty of Postgraduate Education, People's Friendship University of Russia Address: 117198, Moscow, Miklukho-Maklaya St., 8; tel.: (495) 434-10-60 Россия

Т. А. Федорова

Научный центр акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова, Москва, Российская Федерация

Email: tfedorova1@mail.ru
PhD, professor, Head of Department of Blood Gravitational Surgery of V.I. Kulakov Scientific Center for Obstetrics, Gynecology and Perinatology. Address: 117485, Moscow, Acad. Oparin St., 4; tel.: (495) 531-44-44 Россия

Н. В. Лаптева

Российский университет дружбы народов, Москва, Российская Федерация

Email: nvlapteva@gmail.com
assistant of the Department of Obstetrics, Gynecology and Reproductive Medicine, Faculty of Postgraduate Education, People's Friendship University of Russia Address: 117198, Moscow, Miklukho-Maklaya St., 8; tel.: (495) 434-10-60 Россия

Список литературы

  1. Gasparov A.S., Dubinskaya E.D. Endometrioz i besplodie: innovatsionnye resheniya [Endometriosis and Infertility: innovative solutions]. Moscow, MIA, 2013. 128 p.
  2. Burlev V.A., Il'yasova N.A., Dubinskaya E.D. Angiogenesis of ectopic endometrium. Problemy reproduktsii = Russian Journal of Human Reproduction. 2005; 1: 7–13.
  3. Senapati S., Barnhart K.. Managing endometriosis associated infertility. Clin. Obstet. Gynecol. 2011; 54 (4): 720–726. doi: 10.1097/GRF.0b013e3182353e06
  4. Gupta S., Goldberg J.M., Aziz N. et al. Pathogenic mechanisms in endometriosis-associated infertility. Fertil. Steril. 2008; 90 (2): 247–257.
  5. Tempfer C.B., Simoni M., Destenaves B., Fauser B.C. Functional genetic polymorphisms and female reproductive disorders: part II — endometriosis. Hum. Reprod. Update. 2009; 15 (1): 97–118.
  6. Billington B.P. Gastric cancer; relationships between ABO blood-groups, site, and epidemiology. Lancet. 1956; 271: 859–862.
  7. Escobar-Morreale H.F., Luque-Ramirez M., San Millan J.L. The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome. Endocr. Rev. 2005; 26: 251–282.
  8. Ferreira P.M., Catarino R., Pereira D., Matos A., Pinto D., Coelho A., Lopes C., Medeiros R. Cervical cancer and CYP2E1 polymorphisms: implications for molecular epidemiology. Eur. J. Clin. Pharmacol. 2006; 62: 15–21.
  9. Goswami D., Conway G.S. Premature ovarian failure. Hum. Reprod. Update. 2005; 11: 391–410.
  10. Layman L.C. Editorial: BMP15 — the first true ovarian determinant gene on the X-chromosome? J. Clin. Endocrinol. Metab. 2006; 91: 1673–1676.
  11. Levanat S., Musani V., Komar A., Oreskovic S. Role of the hedgehog/patched signaling pathway in oncogenesis: a new polymorphism in the PTCH gene in ovarian fibroma. Ann. N.Y. Acad. Sci. 2004; 1030: 134–143.
  12. Modugno F. Ovarian cancer and polymorphisms in the androgen and progesterone receptor genes: a HuGE review. Am. J. Epidemiol. 2004; 159: 319–335.
  13. Kim J.G., Kim J.Y., Jee B.C., Suh C.S., Kim S.H., Choi Y.M. Association between endometriosis and polymorphisms in endostatin and vascular endothelial growth factor and their serum levels in Korean women. Fertil. Steril. 2007; 89: 243–245.
  14. He C., Song Y., He X., Zhang W., Liao L. No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population. Environ. Mol. Mutagen. 2006; 47: 307–309.
  15. Kiyomizu M., Kitawaki J., Obayashi H., Ohta M., Koshiba H., Ishihara H., Honjo H. Association of two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene with adenomyosis, glutathione S-transferase M1 gene deletion and genetic susceptibility endometriosis, and leiomyomata in Japanese women. J. Soc. Gynecol. Investig. 2006; 13: 372–377.
  16. Trabert B., Schwartz S.M., Peters U. et al. Genetic variation inthe sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes. Fertil. Steril. 2011; 96 (6): 1401–1406.
  17. Baranova H., Canis M., Ivaschenko T. et al. Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis. Mol. Hum. Reprod. 1999; 5 (7): 636–641.
  18. Fakis G., Boukouvala S., Kawamura A. Description of a novel polymorphic gene encoding for arylamine N-acetyltransferase in the rhesus macaque (Macaca mulatta), a model animal for endometriosis. Pharmacogenet. Genomics. 2007; 17 (3): 181–188.
  19. Huang P.C., Tsai E.M., Li W.F Association between phthalate exposure and glutathione S-transferase M1 polymorphism in adenomyosis, leiomyoma and endometriosis. Hum. Reprod. 2010; 25 (4): 986–994.
  20. Guo S.W. The association of endometriosis risk and genetic polymorphisms involving dioxin detoxification enzymes: a systematic review. Eur. J. Obstet. Gynecol. Reprod. Biol. 2006 1; 124 (2): 134–143.
  21. Matsuzaka Y., Kikuti Y.Y., Goya K. et al. Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study. Environ. Health Prev. Med. 2012; 17 (6): 512–517.
  22. Babu K.A., Rao K.L., Reddy N.G. et al. N-acetyl transferase 2 polymorphism and advanced stages of endometriosis in South Indian women. Reprod. Biomed. Online. 2004; 9 (5): 533–540.
  23. Ivashchenko T.E., Shved N.Iu., Kramareva N.A. et al. Analysis of the polymorphic alleles of genes encoding phase 1 and phase 2 detoxication enzymes in patients with endometriosis. Genetika. 2003; 39 (4): 525–529.
  24. Practice Committee of American Society for Reproductive Medicine in collaboration with Society for Reproductive Endocrinology and Infertility Optimizing Natural Fertility. Fertil. Steril. 2008; 90 (Suppl. 5): 1–6.
  25. Kan H.P., Wu F.L., Guo W.B. Null genotypes of GSTM1 and GSTT1 contribute to male factor infertility risk: A meta-analysis. Fertil. Steril. 2013; 99 (3): 690-696.
  26. Kovac J.R., Pastuszak A.W., Lamb D.J. The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility. Fertil. Steril. 2013; 99: 998–1007.
  27. O’Flynn O’Brien K.L., Varghese A.C., Agarwal A. The genetic causes of male factor infertility: A review. Fertil. Steril. 2010; 93: 1–12.
  28. Arnhold I.J., LatronicoA.C., Batista M.C. et al. Menstrual disorders and infertility caused by inactivating mutations of the luteinizing hormone receptor gene. Fertil. Steril. 1999; 71 (4): 597–601.
  29. Smol'nikova V.Yu. Ekstrakorporal'noe oplodotvorenie i perenos embrionov v polost' matki v lechenii besplodiya, obuslovlennogo genital'nym endometriozom (klinicheskie i embriologicheskie aspekty). Avtoref. dis ... dokt. med. nauk [In vitro fertilization and embryo transfer into the uterus in the treatment of infertility caused by endometriosis (clinical and embryological aspects). Doctor of Medical Science. Diss.]. 2002. 7–42 p.
  30. Boyarskii K.Yu., Gaidukov S.N., Chinchaladze A.S. Factors, determining ovarian reserve of woman. Zhurnal akusherstva i zhenskikh boleznei = Journal of obstetrics and women's diseases. 2009; 58 (2): 65–71.
  31. Karita M., Yamashita Y., Hayashi A. et al. Does advance stage endometriosis affect the gene expression of estrogen and progesterone receptors ingranulosa cells? Fertil. Steril. 2011; 95: 889–894.
  32. Roya R., Baludu G.S., B. Reddy S. Possible aggravating impact of gene polymorphism in women with endometriosis. Indian J. Med. Res. 2009; 129: 395–400.
  33. Sonova M.M. The Detoxication gene as gene candidat of genital endometriosis. Vestnik novykh meditsinskikh tekhnologii = Journal of new medical technologies. 2009; 16 (1): 79–80.
  34. Adamyan L.V., Kulakov V.I. Endometriozy. Ruk-vo dlya vrachei [Endometriosis. Guide for Physicians]. Мoscow, Meditsina. 2006. 416 p.
  35. Adamyan L.V., Kalinina E.A., Kolotovkina A.V., Kogan E.A. Problemy reproduktsii = Russian Journal of Human Reproduction. 2010; 5: 47–51.
  36. Kubiak X., Dairou J., Dupret J.M., Rodrigues-Lima F. Crystal structure of arylamine N-acetyltransferases: insights into the mechanisms of action and substrate selectivity. Exp. Opin. Drug Metab. Toxicol. 2013; 9 (3): 349–362.
  37. Sim E., Walters K., Boukouvala S. Arylamine N-acetyltransferases: from structure to function. Drug Metab. Rev. 2008; 40 (3): 479–510.
  38. Cai J., Zhao Y., Zhu C.L. et al. The association of NAT1 polymorphisms and colorectal carcinoma risk: evidence from 20 000 subjects. Mol. Biol. Rep. 2012; 39 (7): 7497–7503.
  39. Zabost A., Roszkowska-Śliż B., Wiatr E. et al. Polymorphism in the N-acetyltransferase 2 gene in patients with lung cancer. Short communication. Pneumonol. Allergol. Pol. 2012; 80 (4): 323–328.
  40. Oqal M.K., Mustafa K.N., Irshaid Y.M. et al. N-acetyltransferase-2 genotypes among patients with rheumatoid arthritis attending Jordan University Hospital. Gen. Test Mol. Biomarkers. 2012; 16 (9): 1007–1010.
  41. Kagaya H., Miura M., Niioka T. et al. Influence of NAT2 polymorphisms on sulfamethoxazole pharmacokinetics in renal transplant recipients. Antimicrob. Agents Chemother. 2012; 56 (2): 825–829.
  42. Leiro-Fernandez V., Valverde D., Vázquez-Gallardo R. et al. N-acetyltransferase 2 polymorphisms and risk of anti-tuberculosis drug-induced hepatotoxicity in Caucasians. Int. J. Tuberc. Lung Dis. 2011; 15 (10): 1403–1408.
  43. Hein D.W., Doll M.A. Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylatorphenotypes. Pharmacogenomics. 2012; 13 (1): 31–41.
  44. Patin E., Barreiro L.B., Sabeti P.C., Austerlitz F., Luca F., Sajantila A., Behar D.M., Semino O., Sakuntabhai A., Guiso N., Gicquel B., McElreavey K., Harding R.M., Heyer E., Quintana-Murci L. Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am. J. Hum. Genet. 2006; 78: 423–436.
  45. Ilett K.F., Kadlubar F.F., Minchin R.F. 1998 Meeting on arylamine N-acetyltransferases: synopsis of the workshop on nomenclature, biochemistry, molecular biology, interspecies comparisons, and role in human disease risk. Drug. Metab. Dispos.1999; 27: 957–959.
  46. Fretland A.J., Leff M.A., Doll M.A., Hein D.W. Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms. Pharmacogenetics. 2001; 11 (3): 207-215.
  47. Hein D.W., Doll M.A., Fretland A.J., Leff M.A., Webb S.J., Xiao G.H., Devanaboyina U.-S., Nangju N.A., Feng Y. Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. Cancer Epidemiol. Biomarkers Prev. 2000; 9: 29.
  48. Straka R.J., Burkhardt R.T., Lang N.P., Hadsall K.Z., Tsai M.Y. Discordance between N-acetyltransferase 2 phenotype and genotype in a population of human subjects. J. Clin. Pharmacol. 2006; 46 (7):802–811.
  49. Gonzalez F.J., Fernandez-Salguero P. The aryl hydrocarbon receptor: studies using the AHR-null mice. Drug Metab. Dispos. 1998; 26: 1194–1198.
  50. Huber P.C., Almeida W.P., Fatima A. Glutathione and related enzymes: biological roles and importance in pathological processes. Quím Nova. 2008; 31: 1170–1179.
  51. Nagata M. Inflammatory cells and oxygen radicals. Curr. Drug Targets Inflamm. Allergy. 2005; 4: 503–504.
  52. Burlev V.A ., Il'yasova N.A., Burlev A.V., Dubinskaya E.D. Pelvic and extrapelvic peritoneum: angiogenic activity and apoptosis in patients with peritoneal endometriosis. Problemy reproduktsii = Russian Journal of Human Reproduction. 2010; 4: 7–15.
  53. Burlev V.A. The inflammation stress: Systemic angiogenesis, acute phase proteins and tissue destruction products in patients with chronic recurrent salpingoophoritis. Problemy reproduktsii = Russian Journal of Human Reproduction. 2011; 5: 25–32.
  54. Burlev V.A., Fedorova T.A., Pshenichnikova T.Ya. Avtorskoe svidetel'stvo [Certificate of authorship № 1273799] Bulletin № 44. 1986.
  55. Burlev V.A., Ledina A.V., Il'yasova N.A. Flavonoids as antioxidants and antiangiogenic factors in obstetrics and gynaecology. Problemy reproduktsii = Russian Journal of Human Reproduction. 2010; 1: 24–31.
  56. Lambrinoudaki I.V., Augoulea A., Christodoulakos G.E. Measurable serum markers of oxidative stress response in women with endometriosis. Fertil. Steril. 2009; 91 (1): 46–50.
  57. Prieto L., Quesada J.F., Cambero O. et al. Analysis of follicular fluid and serum markers of oxidative stress in women with infertility related toendometriosis. Fertil. Steril. 2012; 98 (1): 126–130.
  58. Dairou J., Petit E., Ragunathan N. Arylamine N-acetyltransferase activity in bronchial epithelial cells and its inhibition by cellular oxidants. Toxicol. Appl. Pharmacol. 2009 1; 236 (3): 366–371.
  59. Kumaraguruparan R., Seshagiri P.B., Hara Y. et al. Chemoprevention of rat mammary carcinogenesis by black tea polyphenols: modulation of xenobiotic-metabolizing enzymes, oxidative stress, cell proliferation, apoptosis, and angiogenesis. Mol. Carcinog. 2007; 46 (9): 797–806.
  60. Noll C., Dairou J., Ripoll C. et al. Effect of red wine polyphenol dietary supplementation on two phase II enzymes in liver of hyperhomocysteinemic mice. Food Chem. Toxicol. 2011; 49 (8): 1764–1769.
  61. Pasqualotto E.B., Lara L.V., Salvador M. et al. The role of enzymatic antioxidants detected in the follicular fluid and semen of infertile couples undergoing assisted reproduction. Hum. Fertil. (Camb.). 2009; 12 (3):166–171.
  62. Malyshkina A.I., Fetisova I.N., Lipin M.A. Genes polymorphism of systems detoxification in married couples participating in vitro fertilization program. Detskaya meditsina Severo-Zapada = Baby medicine North-West. 2012; 2 (3): 24–26.

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