MODERN GENETIC ASPECTS OF PELVIC ORGAN PROLAPS
Abstract
The review of the russian and foreign literature on pelvic organ prolapse in women and its genetic aspects. According to the literature, an association of pelvic organ prolapse (POP) with a number of single nucleotide polymorphisms (SNPs) on chromosome 9q21, which are involved in the formation of elastic fibers of the connective tissue (CT). The association also polymorphism fibullin – 5 (FBLN5) and lysyl oxidase – like 1 (LOXL1) and their
relationship to POP. Based on the literature, studies aimed at identifying the genetic nature of the POP, are incomplete and are important for the identification of risk groups who have a predisposition to POP, selecting the optimal policy for patients at risk and the initial stages of POP.
relationship to POP. Based on the literature, studies aimed at identifying the genetic nature of the POP, are incomplete and are important for the identification of risk groups who have a predisposition to POP, selecting the optimal policy for patients at risk and the initial stages of POP.
About the Authors
S. V. Kamoeva
GBOU VPO RNIMU named after N.I. Pirogov of Ministry of Healthcare of Russia, Moscow
Russian Federation
Russian Federation
T. N. Savchenko
GBOU VPO RNIMU named after N.I. Pirogov of Ministry of Healthcare of Russia, Moscow
Russian Federation
Russian Federation
A. V. Ivanova
GBOU VPO RNIMU named after N.I. Pirogov of Ministry of Healthcare of Russia, Moscow
Russian Federation
Russian Federation
H. A. Abaeva
GBOU VPO RNIMU named after N.I. Pirogov of Ministry of Healthcare of Russia, Moscow
Russian Federation
Russian Federation
References
1. Адамян Л.В., Смольнова Т.Ю., Сидоров В.В. Лазерная допплеровская флоуметрия в изучении состояния микроциркуляторного русла у больных с опухолевыми заболеваниями гениталий. Вопросы гинекологии, акушерства и перинатологии. 2006; 5: 34-39.
2. Апокина А.Н. Прогнозирование эффективности хирургической коррекции пролапса тазовых органов. Автореф. дисс. … канд. мед. наук. М. 2012; 25 с.
3. Беженарь В.Ф., Богатырева Е.В., Павлова Н.Г. и др. Под ред. Э.К. Айламазян. Пролапс тазовых органов у женщин: этиология, патогенез, принципы диагностики. Пособие для врачей. СПб. 2010.
4. Дегтярева Ю.А. Пролапс тазовых органов у женщин: факторы риска, прогнозирование клинического течения заболевания Автореф. дисс. канд. мед. наук. СПб. 2010; 24 с.
5. Жданова М.С. Пролапс гениталий у женщин с дисплазией соединительной ткани, тактика ведения. Автореф. дисс. … канд. мед. наук. М. 2009; 24 с.
6. Кадурина Т.И. Наследственные коллагенопатии. СПб. 2000; 270 с.
7. Капустин А.Н. Роль матриксного белка фибуллина-5 в регуляции функциональных свойств урокиназы. Автореф. дисс. канд. биол. наук. М. 2005; 20 с.
8. Краснопольский В.И., Буянова С.Н. Опущение и выпадение влагалища и матки. Заболевание шейки матки, влагалища и вульвы. Под ред. В.Н. Прилепской. М. 2003; 367-396.
9. Краснопольский В.И., Буянова С.Н., Щукина Н.А., Петрова В.Д., Попов А.А., Чечнева М.А., Кашина Е.А., Краснопольская И.В., Муравьева Т.Г., Путиловский М.А., Хайруллина Д.М. Хирургическое лечение больных с опущением и выпадением внутренних половых органов и профилактика опущения купола влагалища после гистерэктомии. Российский вестник акушера-гинеколога. 2006; 6 (4): 66-71.
10. Мусткиви Н.А. Коррекция пролапса гениталий лапароскопическим доступом. Автореф. дисс. … канд. мед. наук. М. 2010; 26 с.
11. Озова М.М. Эффективность экстраперитонеального неофасциогенеза в лечении генитального пролапса. Автореф. дисс. … канд. мед. наук. М. 2008; 18 с.
12. Радзинский В.Е., Дурандин Ю.М., Гагаев Ч.Г., Токтар Л.Р., Марилова Н.А., Тотчиев Г.Ф., Шалаев О.Н. Перинеология: Болезни женской промежности в акушерско-гинекологических, сексологических, урологических, проктологических аспектах. Под редакцией В.Е. Радзинского. М. 2006; 336 с.
13. Ремиш В.В. Повреждение основных компонентов стромальных биоструктур организма и его фармакологическая коррекция. Автореф. дисс. докт. фарм. наук. Кишинев, 2005.
14. Смирнова М.Ю., СтроевЮ.И., Ниаури Д.А., Шлыкова А.В. Недифференцированные дисплазии соединительной ткани и их значение в акушерско-гинекологической практике (обзор литературы). Вестник Санкт-Петербургского университета. 2006; 11 (4): 95-104.
15. Смольнова Т.Ю. Клинико-патогенетические аспекты опущения и выпадения внутренних половых органов и патологии структур тазового комплекса у женщин при дисплазии соединительной ткани. Тактика ведения. Автореф. дисс. докт. мед. наук. М. 2009; 57 с.
16. Ящук А.Г. Генетические аспекты развития пролапса гениталий: обзор. Российский вестник акушера-гинеколога. 2008; 8 (4): 31-36.
17. Bai S.W., Сhoe B.H., Kim J.Y., Park K.H. Pelvic oran prolapse and connective tissue abnormalities in Korean women. J. Repord. Med. 2002; 47 (3): 231-234.
18. Chou Y.C., Yu K.J. Entrapped vaginal pessary presented with frequency and urge in continence. Chin. Med. Assoc. 2003; 66 (3): 181-183.
19. Damaser M., Whitbeck C., Chichester P., Levin R.M. Effect of vaginal distension on blood flow and hypoxia of urogenital organs of the female rat. J. Appl. Physiol. 2005; 98: 1884-1890.
20. De Vega S., Iwamoto T., Nakamura T., Hozumi K., McKnight D.A., Fisher L.W., Fukumoto S., Yamada Y. TM14 is a new member of the fibulin family (fibulin-7) that interacts with extracellular matrix molecules and is active for cell binding. J. Biol. Chem. 2007; 282: 30878- 30888.
21. Deeb M.E., Awwad J., Yeretzian J.S., Kaspar H.G. Prevalence of reproductive tract infections, genital prolapse, and obesity in a rural community in Lebanon. Bull World Health Organ. 2003; 81 (9): 639-45.
22. Drewes P.G., Yanagisawa H., Starcher B., Hornstra I.K., Csiszar K., Marinis S.I., Keller P., Word R.A. Pelvic organ prolapse in fibulin-5 knockout mice: pregnancy changes in elastic fiber homeostasis in mouse vagina. Am. J. Pathol. 2007; 170: 578-589.
23. Georgia Ferrell, Minyan Lu, Paul Stoddard, Mary D. Sammel, Roberto Romero, Jerome F. Strauss and Catherine A. Matthews. A Single Nucleotide Polymorphism in the Promoter of the LOXL1 Gene and Its Relationship to Pelvic Organ Prolapse and Preterm Premature Rupture of Membranes. Reprod Sci. 2009; 16 (5): 438-446.
24. Haim Krissi, Reuvit Halperin, Pumella Koren, Yoav Peled The presence and location of estrogen and progesterone receptors in the human pelvic cardinal ligaments. Pelviperineology. 2010; 29: 17-19.
25. Hirai M., Horiguchi M., Ohbayashi T., Kita T., Chien K.R., Nakamura T. Latent TGF-betabinding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly. EMBO J. 2007; 26 (14): 3283-3295. Epub 2007 Jun 21.
26. Hirai M., Ohbayashi T., Horiguchi M., Okawa K., Hagiwara A., Chien K.R., Kita T., Nakamura T. Fibulin-5/DANCE has an elastogenic organizer activity that is abrogated by proteolytic cleavage in vivo. J. Cell. Biol. 2007; 176 (7): 1061-1071. Epub 2007 Mar 19.
27. Jepsen K.J., Wu F., Peragallo J.H., Paul J., Roberts L., Ezura Y., Oldberg A., Birk D.E., Chakravarti S.A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice. J. Biol. Chem. 2002; 277 (38): 35532-35540. Epub 2002.
28. Kirsi M. Rinne, Pertti P. Kirkinen. What predisposes young women to genital prolapse? Eur. J. Obstet. Gynec. Reprod. Biol. 2001; 84: 23-25.
29. Kivirikko K. Collagens and there abnormalities in a wide spectrum of desieses. Ann. of med 2001; 25: 113-126.
30. Kostka G., Giltay R., Bloch W., Addicks K., Timpl R., Fassler R., Chu M.L. Perinatal lethality and endothelial cell abnormalities in several vessel compartments of fibulin-1-deficient mice. Mol. Cell. Biol. 2001; 21: 7025-7034.
31. Kristina Allen-Brady, Peggy A. Norton, James M. Farnham, Craig Teerlink, Lisa A. Cannon- Albright. Significant Linkage Evidence for a Predisposition Gene for Pelvic Floor Disorders on Chromosome 9q21. The American Journal of Human Genetics. 2009; 84: 678-682.
32. Labouesse M. Role of the extracellular matrix in epithelial morphogenesis: A view from C. elegans. Organogenesis. 2012; 8 (2): 65-70. Epub 2012 Apr 1.
33. Liu X., Zhao Y., Gao J., Pawlyk B., Starcher B., Spencer J.A., Yanagisawa H., Zuo J., Li T. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat. Genet. 2004; 36 (2): 178-182.
34. Liu X., Zhao Y., Pawlyk B., Damaser M., Li T. Failure of elastic fiber homeostasis leads to pelvic floor disorders. Am. J. Pathol. 2006; 168: 519-528. [PMC free article] [PubMed]
35. McLaughlin P.J., Bakall B., Choi J., Liu Z., Sasaki T., Davis E.C., Marmorstein A.D., Marmorstein L.Y. Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice. Hum. Mol. Genet. 2007; 16: 3059-3070.
36. McLaughlin P.J., Chen Q., Horiguchi M., Starcher B.C., Stanton J.B., Broekelmann T.J., Marmorstein A.D., McKay B., Mecham R., Nakamura T., Marmorstein L.Y. Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol. Cell. Biol. 2006; 26: 1700-1709.
37. Norra MacReady. Pelvic Organ Prolapse Linked to Genetic Variations. American Urogynecologic Society (AUGS) 31st Annual Scientific Meeting. Abstract 1. http://www.drjkm.com/pelvic-organ-prolapse-linkedgenetic-variations/ (presented 20.10.2010)
38. Rahn D.D., Acevedo J.F., Word R.A. Effect of vaginal distention on elastic fiber synthesis and matrix degradation in the vaginal wall: potential role in the pathogenesis of pelvic organ prolaps. Am. J. Physiol. Regul. Integr. Comp. Physiol. 2008; 295: 1351-1358. [PubMed]
39. Samuelsson E.C., Victor F.T., Tibblin G., Svardsudd K.F. Signs of genital prolapse in a Swedish population of women 20 to 59 years of age and possible related factors. Am. J. Obstet. Gynecol. 1999; 180 (2 Pt l): 299-305.
40. Schaffer J.I., Bloom S.L. A randomized trial of the effects of coached vs uncoached maternal pushing during the second stage of labor on postpartum pelvic floor structure and function. Am J Obstet Gynecol. 2005; 192 (5): 1692- 1696.
41. Scherf C. et al. Epidemiology of pelvic organ prolapse in rural Gambia, West Africa. BJOG. 2002; 109 (4): 431-436.
42. Shingleton W.D., Hodges D.J., Brick P., Cawston T.E. Collagenase: a key enzyme in collagen turnover. Biochem. Cell. Biol. 1996; 74 (6): 759-775.
43. Söderberg M.W., Byström B., Kalamajski S., Malmström A., Ekman-Ordeberg G. Gene expressions of small leucine-rich repeat proteoglycans and fibulin-5 are decreased in pelvic organ prolapse. Mol. Hum. Reprod. 2009; 15 (4): 251-257. Epub. 2009; Feb 27.
44. Sricholpech M., Perdivara I., Yokoyama M., Nagaoka H., Terajima M., Tomer K.B., Yamauchi M. Lysyl hydroxylase 3-mediated glucosylation in type I collagen: Molecular Loci and biological significance. J. Biol. Chem. 2012; 287 (27): 22998-3009. Epub 2012 May 9.
45. Takacs P., Nassiri M., Viciana A., Candiotti K., Fornoni A., Medina C.A. Fibulin-5 expression is decreased in women with anterior vaginal wall prolapsed. International urogynecology journal and pelvic floor dysfunction. 2009; 20 (2): 207-211.
46. Twiss C. at al. The epidemiology, social burden, and genetics of pelvic organ prolapsed current bladder disfunction reports. 2008; 3: 90-94.
47. Una J. Lee, A. Marcus Gustilo-Ashby, Firouz Daneshgari, Mei Kuang, Drina Vurbic, Dan Li Lin, Chris A. Flask, Tiansen Li, and Margot S. Damaser. Lower urogenital tract anatomical and functional phenotype in lysyl oxidase like-1 knockout mice resembles female pelvic floor dysfunction in humans. Am. J. Physiol. Renal. Physiol. 2008; 295: 545-555.
48. Van Lint P., Libert C. Chemokine and cytokine processing by matrix metalloproteinases and its effect on leucocyte migration and inflammation. J. Leukoc. Biol. 2007; 82 (6): 1375-1381.
49. Zacchigna L., Vecchione C., Notte A., Cordenonsi M. et al. Emilin1 links TGF-beta maturation to blood pressure homeostasis. Cell. 2006; 124 (5): 929-942.
Review
For citations:
Kamoeva S.V., Savchenko T.N., Ivanova A.V., Abaeva H.A. MODERN GENETIC ASPECTS OF PELVIC ORGAN PROLAPS. Obstetrics, Gynecology and Reproduction. 2013;7(1):17-21. (In Russ.)
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