Modern molecular genetic and biochemical predictors of genital prolapse (a review)

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Analysis of published data on genetic polymorphisms and biochemical mechanisms of genital prolapse is presented. The paper prasents the modern data on the impact of genetic polymorphisms on genital prolapse predisposition. It describes appropriate molecular genetic and biochemical processes of pathological connective tissue formation of pelvic organs and the pelvic complex in women with genital prolapse, including the background of connective tissue dysplasia syndromе.

Keywords:

genital prolapse

COL3A1

WNK1

FBLN5

LOX polymorphisms

connective tissue dysplasia

TGF-β1

Authors:

Lukyanova D.M.

I.M. Sechenov First Moscow State Medical University, Ministry of Healthcare of Russia, Moscow, Russia, 119991

Smolnova T.Yu.

Academician V.I. Kulakov Research Center for Obstetrics, Gynecology, and Perinatology Ministry of Healthcare of Russia, Moscow, Russia, 117997;
Department of Reproductive Medicine and Surgery, Faculty for Postgraduate Education, A.I. Evdokimov Moscow State University of Medicine and Dentistry, Moscow, Russia, 127473

Adamyan L.V.

Department of Reproductive Medicine and Surgery, Faculty of Postgraduate Professional Education, A.I. Evdokimov Moscow State University of Medicine and Dentistry, Ministry of Health of Russia, Moscow, Russia

SPIN RSCI: 9836-2713
Scopus AuthorID: 7006372422
ResearcherID: Q-1722-2018
ORCID: 0000-0002-3253-4512

List of references:

Negaard I, Barber MD, Burgio KL, Kenton K, Meikle S, Schaffer J, et al. Prevalence of symptomatic pelvic floor disorders in US women. JAMA. 2008;300(11):1311-1316. doi: 10.1001/jama.300.11.1311
Jelovsek JE, Maher C, Barber MD. Pelvic organ prolapse. Lancet. 2007;369(9566):1027-1038. doi: 10.1016/S0140-6736(07)60462-0
Krasnopol'skij VI, Ioseliani MN, Rizhinashvili ID, Slobodjanjuk AI. Sovremennye aspekty hirurgicheskogo lechenija opushhenija i vypadenija vnutrennih polovyh organov zhenshhiny. Akusherstvo i ginekologija. 1990;8:58-61. (In Russ.).
Adamyan LV, Kulakov VI, Kiselev SV, Sashin BE. Laparo-vaginal'nyi dostup v khirurgicheskom lechenii opushcheniya stenok vlagalishcha, nesostoyatel'nosti myshts tazovogo dna i nederzhaniya mochi pri napryazhenii u zhenshchin detorodnogo vozrasta. In: Kulakov V.I., Adamyan L.V., ed. Endoscopy diagnosis and treatment of pathologies of the uterus. Proceedings of the International Congress with a course of endoscopy. Moscow; 1997;191-193. (In Russ.).
Chen B, Yeh J. Alterations in connective tissue metabolism in stress incontinence and prolapse. J Urol. 2011;186(5):1768-1772. doi: 10.1016/j.juro.2011.06.054
Hermieu JF, Le Guilchet T. Genital prolapse and urinary incontinence: a review. J Med Liban. 2013;61(1):61-66. doi: 10.12816/0000402
Smol'nova TYu, Adamyan LV, Liashko ES. Assotsiirovannaya patologiya organov malogo taza i tazovogo dna u bol'nykh s displaziei soedinitel'noi tkani: Materialy Pervoi Vserossiiskoi nauchno-prakticheskoi konferentsii. Omskii nauchnyi vestnik. 2005;32(5):83. (In Russ.).
Smol'nova TYu, Adamyan LV, Liashko ES. Sindrom displazii soedinitel'noi tkani v akusherstve i ginekologii. V sb.: Kulakov V.I., Adamyan L.V. Sovremennye tekhnologii v diagnostike i lechenii ginekologicheskikh zabolevanii. Moscow. 2005;257. (In Russ.).
Smol'nova TYu, Savelev SV, Grishin VL, Titchenko LI, Yakovleva NI. Prolaps genitalij - sledstvie travmatichnyh rodov ili generalizovannoj displazii soedinitel'noj tkani. Akusherstvo i ginekologija. 2001;4:50-53. (In Russ.).
Norton PA, Baker JE, Sharp HC, Warenski J.C. Genitourinary prolapse and joint hypermobility in women. Obstet Gynecol. 1995;85(2):225-228. doi: 10.1016/0029-7844(94)00386-R
Hansell NK, Dietz HP, Treloar SA, Clarke B, Martin NG. Genetic covariation of pelvic organ and elbow mobility in twins and their sisters. Twin Res. 2004;7(3):254-260. doi: 10.1375/twin/7/3/254
Norton PA, Allen-Brady K, Cannon-Albright LA. The familiality of pelvic organ prolapse in the Utah Population Database. Int Urogynecol J. 2013;24(3):413-418. doi: 10.1007/s00192-012-1866-0
Andrada Hamer M, Persson J. Familial predisposition to pelvic floor dysfunction: prolapse and incontinence surgery among family members and its relationship with age or parity in a Swedish population. Eur J Obstet Gynecol Reprod Biol. 2013;170(2):559-562. doi: 10.1016/j.ejogrb.2013.07.025
Carley M, Schaffer J. Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers Danlos syndrome. Am J Obstet Gynecol. 2000;182(5):1021-1023. doi: 10.1067/mob.2000.105410
Cartwright R, Kirby AC, Tikkinen KA, Mangera A, Thiagamoorthy G, Rajan P, et al. Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. Am J Obstet Gynecol. 2015;212(2):199.е1-e24. doi: 10.1061/j.ajog.2014.08.005
Feiner B, Fares F, Azam N, Auslender R, David M, Abramov Y. Does COLIA1 SP1-binding site polymorphism predispose women to pelvic organ prolapse? Int Urogynecol J. 2009;20(9):1061-1065. doi: 10.1007/s00192-009-0895-9
Cho HJ, Jung HJ, Kim SK, Choi JR, Cho NH, Bai SW. Polymorphism of a COLIA1 gene Sp1 binding site in Korean women with pelvic organ prolapse. Yonsei Med J. 2009;50(4):564-568. doi: 10.3349/ymj.2009.50.4.564
Sioutis D, Economou E, Lambrinoudaki I, Tsamadias V, Creatsa M, Liapis A. Sp1 collagen I A1 polymorphism in women with stress urinary incontinence. Int Urogynecol J. 2011;22(7):835-839. doi: 10.1007/s00192-011-1372-9
Kluivers KB, Dijkstra JR, Hendriks JCM, Lince SL, Vierhout ME, van Kempen LC. COL3A1 2209G>A is a predictor of pelvic organ prolapse. Int Urogynecol J. 2009;20(9):1113-1118. doi: 10.1007/s00192-009-0913-y
Martins K de F, de Jármy-DiBella ZI, da Fonseca AM, Castro RA, da Silva ID, Girao MJ, et al. Evaluation of demographic, clinical characteristics, and genetic polymorphism as risk factors for pelvic organ prolapse in Brazilian women. Neurourol Urodyn. 2011;30(7):1325-1328. doi: 10.1002/nau.21066
Alarab M, Bortolini MA, Drutz H, Lye S, Shynlova O. LOX family enzymes expression in vaginal tissue of premenopausal women with severe pelvic organ prolapse. Int Urogynecol J. 2010;21(11):1397-1404. doi: 10.1007/s00192-010-1199-9
Liu X, Zhao Y, Gao J, Pawlyk B, Starcher B, Spencer JA, Yanagisawa H, Zuo J, Li T. Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nat Genet. 2004;36(2):178-182. doi: 10.1038/ng1297
Neupane R, Sadeghi Z, Fu R, Hagstrom SA, Moore CK, Daneshgari F. Mutation screen of LOXL1 in patients with female pelvic organ prolapse. Female Pelvic Med. Reconstr Surg. 2014;20(6):316-321. doi: 10.1097/spv.0000000000000108
Khadzhieva MB, Kamoeva SV, Chumachenko AG, Ivanova AV, Volodin IV, Vladimirov IS. Fibulin-5 (FBLN5) gene polymorphism is associated with pelvic organ prolapse. Maturitas. 2014;78(4):287-292. doi: 10.1016/j.maturitas.2014.05.003
Yanagisawa H, Schluterman MK, Brekken RA. Fibulin-5, an integrin-binding matricellular protein: its function in development and disease. J Cell Commun Signal. 2009;3(3-4):337-347. doi: 10.1007/s12079-009-0065-3
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. doi: 10.2353/ajpath.2007.050399
Zhou Y, Ling O, Bo L. Expression and significance of lysyl oxidase-like 1 and fibulin-5 in the cardinal ligament tissue of patients with pelvic floor dysfunction. J Biomed Res. 2013;27(1):23-28. doi: 10.7555/jbr.27.10110142
Budatha M, Silva S, Montoya TI, Suzuki A, Shah-Simpson S, Wieslander CK. Dysregulation of protease and protease inhibitors in a mouse model of human pelvic organ prolapse. PLoS One. 2013;8(2):e56376. doi: 10.1371/journal.pone.0056376
Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z. Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. Hum Mol Genet. 2006;15(23):3379-3386. doi: 10.1093/hmg/dd1414
Wang X, Li Y, Chen J, Guo X, Guan H, Li C. Differential expression profiling of matrix metalloproteinases and tissue inhibitors of metalloproteinases in females with or without pelvic organ prolapse. Mol Med Rep. 2014;10(4):2004-2008. doi: 10.3892/mmr.2014.2467
Usta A, Guzin K, Kanter M, Ozgul M, Usta CS. Expression of matrix metalloproteinase-1 in round ligament and uterosacral ligament tissue from women with pelvic organ prolapse. J Mol Histol. 2014;45(3):275-281. doi: 10.1007/s10735-013-9550-3
Wang H, Zhang ZQ, Wang SZ, Lu JL, Wang XL, Zhang ZY. Association of matrix metalloproteinase-10 polymorphisms with susceptibility to pelvic organ prolapse. J Obstet Gynaecol Res. 2015;41(12):1972-1981. doi: 10.1016/jjmig.2015.08.182
Bortolini MA, Shynlova O, Drutz HP, Girаo MJ, Castro RA, Lye S, et al. Expression of Bone Morphogenetic Protein-1 in vaginal tissue of women with severe pelvic organ prolapse. Am J Obstet Gynecol. 2011;204(6):544. doi: 10.1016/j/ajog.2011.01.021
Rao S, Lang J, Zhu L, Chen J. Exome sequencing identifies a novel gene, WNK1, for susceptibility to pelvic organ prolapse (POP). PLoS One. 2015;10(3). doi: 10.1371/journal.pone.0119482
Serysheva E, Berhane H, Grumolato L, Demir K, Balmer S, Bodak M, et al. WNK kinases are positive regulators of canonical Wnt/β-catenin signalling. EMBO Rep. 2013;14(8):718-725. doi: 10/1038/embor.2013.136
Wang Z, Shi HH, Chen G. Role of canonical Wnt signaling transduction pathway in the pathogenesis of pelvic organ prolapse. J Chin Med Assoc. 2012;92(24):1669-1673. doi: 10.3760/cma.j.issn.0376-2491.2012.24.004
Okhrimenko AA. Antioxidant Meksidol in pathogenetic therapy of connective tissue dysplasia. Byulleten' eksperimental'noy biologii i meditsiny. 2006;1:132-135. (In Russ.).
Rusina EI, Bezhenar' VF, Ivashchenko TE, Pakin VS, Baranov VS. NAT2, GST T1, and GST M1 gene polymorphisms in women with pelvic organ prolapse and stress urinary incontinence. Arhiv akusherstva i ginekologii im. V.F. Snegireva. 2014;1(2):36-40. (In Russ.).
Cascorbi I, Brockmöller J, Mrozikiewicz PM, Müller A, Roots I. Arylamine N-acetyltransferase activity in man. Drug Metab Rev. 1999;31(2):489-502. doi: 10.1081/dmr-100101932
Lucero HA, Kagan HM. Lysyl oxidase: an oxidative enzyme and effector of cell function. Review. Cell Mol Life Sci. 2006;63:2304-2316. doi: 10.1007/s00018-006-6149-9
Kim JY, Kim EJ, Jeon MJ. Association between susceptibility to advanced pelvic organ prolapse and glutathione S-transferase P1 Ile105Val polymorphism. Eur J Obstet Gynecol Reprod Biol. 2014;175:205-208. doi: 10.1016/j.ejogrb.2014.01.028
Meijerink AM, van Rijssel RH, van der Linden PJ. Tissue composition of the vaginal wall in women with pelvic organ prolapse. Gynecol Obstet Invest. 2013;75(1):21-27. doi: 10.1159/000341709
Li BS, Hong L, Min J, Wu DB, Hu M, Guo WJ. The expression of glutathione peroxidase-1 and the anabolism of collagen regulation pathway transforming growth factor-beta1-connective tissue growth factor in women with uterine prolapse and the clinic significance. Clin Exp Obstet Gynecol. 2013;40(4):586-590.
Sun B, Zhou L, Wen Y, Wang C, Baer TM, Pera RR, et al. Proliferative behavior of vaginal fibroblasts from women with pelvic organ prolapse. Eur J Obstet Gynecol Reprod Biol. 2014;183:1-4. doi: 10.1016/j.ejogrb.2014.09.040
Zhang P, Hou S, Chen J, Zhang J, Lin F, Ju R, et al. Smad4 deficiency in smooth muscle cells initiates the formation of aortic aneurysm. Circ Res. 2016; 118(3): 388-399. doi: 10.1161/circresaha.115.308040
Kim DJ, Lee DC, Yang SJ, Lee JJ, Bae EM, Kim DM, et al. Lysyl oxidase like 4, a novel target gene of TGF-beta1 signaling, can negatively regulate TGF-beta1-induced cell motility in PLC/PRF/5 hepatoma cells. Biochem Biophys Res Commun. 2008; 373(4):521-527. doi: 10.1016/j.bbrc.2008.06.071
Adamyan LV, Smol'nova TYu, Banin VV. The role of «tissue phenotype» in the development of gynecological diseases. Problemy reproduktsii. 2007;4:6-11. (In Russ.).

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