Reproduktif Sistemde ADAMTS Genleri

Yıl 2019, , 111 - 118, 01.04.2019

Ziya Kalem , Müberra Namlı Kalem , Coşkun Şimşir

https://doi.org/10.32708/uutfd.504161

Cited By: 1

Öz

Güncel genetik
çalışmalarından ele edilen bilgilere göre pek çok gen çeşitli üreme organ ve
dokularında hayati rol oynamaktadır. Fertilitenin tüm makro- ve
mikro-süreçlerinde yoğun araştırmalar devam etmesine ve system çözülmeye
çalışılmasına rağmen, üreme sistemi patofizyolojisi halen tüm bilinmezliğiyle
karşımızda durmaktadır.  Ekstrasellüler matriks
(ECM) hücreler için yapısal bir destek olmasının yanısıra hücrenin şekli,
davranışı, diferansiasyonu, proliferasyonu, gen expresyonu ve hayatiyetleri
üzerinde  belirleyici rolü olan  fonksiyonel bir dokudur. “A Disintegrin-like And Metalloproteinase
with Thrombospondin type-1 motif” (ADAMTS)
proteinleri, ECM yapılarının yıkımından sorumlu, vücutta birçok fizyolojik ve
patolojik  süreçte önemli rolleri olan
çinko bağımlı proteinazlardır. Bu
derlemenin amacı üremenin patofizyolojisinde ADAMTS‘lerin rolleri üzerine
yapılmış çalışmaları biraraya getirerek konuyla ilgili geniş bir perspektif
sunmaktır.

Anahtar Kelimeler

ADAMTS, İmplantasyon, Ovulasyon, plasenta, preeklampsi

ADAMTS Genes in Reproductive System

Öz

Data of recent
genetic studies suggest a critical role of multiple genes in various
reproductive organs and tissues. Even though scrutinizing studies about all
macro- and microprocesses in fertility are yet being held, and the system is
trying to be untangled, the pathophysiology of repruduction remains an
appealing subject to research, which encircles the known sieged by unknown. The
extracellular matrix (ECM) is not only a structural support for the cells, but
also is a functional mesh which has determining role in cellular shapes,
behaviors, differentiation, proliferation, gene expressions, and their life
cycles. A disintegrin-like and metalloproteinase
with thrombospondin type-1 motif
(ADAMTS) proteins are a group of zinc-dependent metalloproteinases responsible
for degradation of ECM structures, which significantly act in many physiologic
and pathologic processes.  We aimed, in
this review, to pose a broad view about the pathophysiology of infertility
gathering the studies pertaining to matricellular proteins and ADAMTS enzymes
which participate in the riddle of matrix breakdown and renewal.

Anahtar Kelimeler

ADAMTS, ovulation, implantation, placenta, preeclampsia

Kaynakça

• 1. Namlı Kalem M, Demircan K, Kalem Z, Demirin H, Eser A, Demirel M, İltemir Duvan ZC. Versatile Matricellular Proteins and Related Adamts Proteinases in Infertility. Turkiye Klinikleri J Gynecol Obst. 2016 DOİ:10.5336/gynobstet.2015-45243
• 2. Unuane D, Tournaye H, Velkeniers B, Poppe K. Endocrine disorders and female infertility. Best Practice & Research Clinical Endocrinology & Metabolism 2011; 25(6): 861-73.
• 3. Anderson RA, Sciorio R, Kinnel H, Bayne RAL . Cumulus gene expression as a predictor of human oocyte fertilization, embryo development and competence to establish a pregnancy.Reproduction 2009;138(4):629-37
• 4. Stamou M I, Cox K H, Crowley Jr, W. F. . Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era. Endocrine reviews 2015; 36(6): 603-621.
• 5. Demircan K, Cömertoğlu İ, Akyol S, Yiğitoğlu BN, Sarıkaya, E. A new biological marker candidate in female reproductive system diseases: Matrix metalloproteinase with thrombospondin motifs (ADAMTS). Journal of the Turkish-German Gynecological Association2014; 15(4).
• 6. Porter S, Clark I, Kevorkian L, Edwards D. The ADAMTS metalloproteinases. Biochem J 2005;386(1):15-27
• 7. Kuno K, Kanada N, Nakashima E, Fujiki F. Molecular cloning of a gene encoding a new type of metalloproteinase – disintegrin family protein with thrombospondin motifs as an inflammation associated gene. J Biol Chem 1997;272(1):556-62
• 8. Stanton H, Melrose J, Little CB, Fosang AJ. Proteoglycan degradation by the ADAMTS family of proteinases. Biochimica et Biophysica Acta 2011;1812(12):1611-29
• 9. Shindo T, Kurihara H, Kuno K, Yokoyama H, Wada T, Kurihara Y, Moriyama N. ADAMTS-1: a metalloproteinase-disintegrin essential for normal growth, fertility, and organ morphology and function. The Journal of clinical investigation 2000; 105(10): 1345-1352.
• 10. Mittaz L, Russell DL, Wilson T, Brasted M, Tkalcevic J, Salamonsen LA, Pritchard MA. (Adamts-1 is essential for the development and function of the urogenital system. Biology of reproduction 2004; 70(4): 1096-1105.
• 11. Cal S, Arguelles JM, Fernandez PL, Lopez-Otin C: Identification, characterization, and intracellular processing of ADAM- TS12, a novel human disintegrin with a complex structural organization involving multiple thrombospondin-1 repeats. J Biol Chem 2001; 276 (21) : 17932–17940.
• 12. Cal S, Obaya AJ, Llamazares M, Garabaya C, Quesada V, López-Otı́n C. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. Gene 2002; 283(1), 49-62.
• 13. Rao C, Foernzler D, Loftus SK, Liu S, McPherson JD, Jungers KA, Apte SS, Pavan WJ, Beier DR: A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development 2003;19 (130) : 4665–4672.
• 14. Hosper NA, Bank RA, van den Berg PP. Human amniotic fluid-derived mesenchymal cells from fetuses with a neural tube defect do not deposit collagen type i protein after TGF-beta1 stimulation in vitro. Stem Cells Dev 2014; 23: 555-62.
• 15. Menke DB, Koubova J, Page DC. Sexual differentiation of germ cells in XX mouse gonads occurs in an anterior-to posterior wave. Dev Biol 2003;262:303–12.
• 16. Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM, et al. Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells. Development 2005;132:3045–54.
• 17. Correa SM, Washburn LL, Kahlon RS, Musson MC, Bouma GJ, Eicher EM, et al. Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway. PLoS Genet 2012;8:e1002569
• 18. McClelland KS, Wainwright EN, Bowles J, Koopman P. Rapid screening of gene function by systemic delivery of morpholino oligonucleotides to live mouse embryos. PLoS One 2015;10:e0114932.
• 19. Doyle KM, Russell DL, Sriraman V, Richards JS. Coordinate transcription of the ADAMTS-1 gene by luteinizing hormone and progesterone receptor. Mol Endocrinol 2004;18:2463–78.
• 20. Freimann S, Ben-Ami I,DantesA, Armon L, BenYa'cov-KleinA, Ron-El R, et al. Differential expression of genes coding for EGF-like factors and ADAMTS1 following gonadotropin stimulation in normal and transformed human granulosa cells. Biochem Biophys Res Commun 2005;333:935–43
• 21. Gao S, De Geyter C, Kossowska K, Zhang H. FSH stimulates the expression of the ADAMTS-16 protease in mature human ovarian follicles. Mol Hum Reprod 2007;13:465–71.
• 22. Robker RL, Russell DL, Espey LL, Lydon JP, O’Malley BW, Richards JS. Progesterone-regulated genes in the ovulation process: ADAMTS-1 and cathepsin L proteases. Proc Natl Acad Sci U S A. 2000;97:4689–94.
• 23. Russell DL, Ochsner SA, Hsieh M, Mulders S, Richards JS. Hormone-regulated expression and localization of versican in the rodent ovary. Endocrinology 2003; 144:1020–31.
• 24. Richards JS, Hernandez-Gonzalez I, Gonzalez-Robayna I, Teuling E, Lo Y, Boerboom D, et al. Regulated expression of ADAMTS family members in follicles and cumulus oocyte complexes: evidence for specific and redundant patterns during ovulation. Biol Reprod 2005;72:1241–55.
• 25. Brown HM, Dunning KR, Robker RL, Boerboom D, Pritchard M, Lane M, et al. ADAMTS1 cleavage of versican mediates essential structural remodeling of the ovarian follicle and cumulus-oocyte matrix during ovulation in mice. Biol Reprod. 2010;83:549–57.
• 26. Shozu M, Minami N, Yokoyama H, Inoue M, Kurihara H, Matsushima K, et al. ADAMTS-1 is involved in normal follicular development, ovulatory process and organization of the medullary vascular network in the ovary. J Mol Endocrinol 2005;35:343–55.
• 27. Brown HM, Dunning KR, Robker RL, Pritchard M, Russell DL. Requirement for ADAMTS-1 in extracellular matrix remodeling during ovarian folliculogenesis and lymphangiogenesis. Dev Biol 2006;300:699–709.
• 28. Shindo T, Kurihara H, Kuno K, Yokoyama H, Wada T, Kurihara Y, et al. Human antral follicles b6 mm: a comparison between in vivo maturation and in vitro maturation in non-hCG primed cycles using cumulus cell gene expression. Mol Hum Reprod 2013;19:7–16.
• 29. Yung Y, Maman E, Konopnicki S, Cohen B, Brengauz M, Lojkin I, et al. ADAMTS-1: a new human ovulatory gene and a cumulus marker for fertilization capacity. Mol Cell Endocrinol 2010;328:104–8.
• 30. Rosewell KL, Al-Alem L, Zakerkish F, McCord L, Akin JW, Chaffin CL, et al. Induction of proteinases in the human preovulatory follicle of the menstrual cycle by human chorionic gonadotropin. Fertil Steril 2015;103:826–33.
• 31. Huang X, Hao C, Shen X, Zhang Y, Liu X. RUNX2, GPX3 and PTX3 gene expression profiling in cumulus cells are reflective oocyte/embryo competence and potentially reliable predictors of embryo developmental competence in PCOS patients. Reprod Biol Endocrinol 2013;11:109.
• 32. Wathlet S, Adriaenssens T, Segers I, Verheyen G, Van de Velde H, Coucke W, et al. Cumulus cell gene expression predicts better cleavage-stage embryo or blastocyst development and pregnancy for ICSI patients. Hum Reprod 2011;26:1035–51.
• 33. Gebhardt KM, Feil DK, Dunning KR, Lane M, Russell DL. Human cumulus cell gene expression as a biomarker of pregnancy outcome after single embryo transfer. Fertil Steril 2011;96(47–52):e42.
• 34. Dewailly D, Lujan ME, Carmina E, Cedars MI, Laven J, Norman R, et al. Definition and significance of polycystic ovarian morphology: a task force report from the Androgen Excess and Polycystic Ovary Syndrome Society. Hum Reprod Update 2014;20:334–52.
• 35. Jansen E, Laven JS, Dommerholt HB, Polman J, van Rijt C, van den Hurk C, et al. Abnormal gene expression profiles in human ovaries from polycystic ovary syndrome patients. Mol Endocrinol 2004;18:3050–63.
• 36. Xiao S, Li Y, Li T, Chen M.Evidence for decreased expression of ADAMTS-1 associated with impaired oocyte quality in PCOS patients. The Journal of Clinical Endocrinology&Metabolism 2014; 99(6): E1015-E1021.
• 37. Goswami D, Conway GS. Premature ovarian failure. Human reproduction update 2005;11(4): 391-410.
• 38. Knauff EA, Franke L, van Es MA, van den Berg LH, van der Schouw YT, Laven JS, et al. Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum Reprod 2009;24:2372–8.
• 39. Ireland JL, Jimenez-Krassel F, Winn ME, Burns DS, Ireland JJ. Evidence for autocrine or paracrine roles of alpha2-macroglobulin in regulation of estradiol production by granulosa cells and development of dominant follicles. Endocrinology 2004;145:2784–2794.
• 40. Poppe K, Velkeniers B, Glinoer D. Thyroid disease and female reproduction. Clin Endocrinol (Oxf). 2007; 66(3):309–21.
• 41. Pyun JA, Kim S, Cha DH, Kwack K. Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure. Menopause 2014(b);21(8):890–5.
• 42. Pyun JA, Kim S, Kwack K. Interaction between thyroglobulin and ADAMTS16 in premature ovarian failure. Clinical and experimental reproductive medicine 2014(a); 41(3): 120-4.
• 43. Aplin JD, Charlton AK, Ayad S. An immunohistochemical study of human endometrial extracellular matrix during the menstrual cycle and the first trimester of pregnancy. Cell Tissue Res 1988;253(1):231-40
• 44. Ng YH, Zhu H, Pallen CJ, Leung PC, MacCalman CD. Differential effects of interleukin-1β and transforming growth factor-β1 on the expression of the inflammation-associated protein, ADAMTS-1, in human decidual stromal cells in vitro. Human Reproduction 2006;21(8):1990-9
• 45. Wen J, Zhu H, Murakami S, Leung P, McCalman C. Regulation of a disintegrin and metalloproteinase with thrombospondin repeats-1 expression in human endometrial stromal cells by gonadal steroids involves progestins, androgens and estrogens. J Clin Endocrinol Metabol 2006;91(12):4825-35
• 46. Lessey, B. A. (2011). Assessment of endometrial receptivity. Fertility and sterility 2011; 96(3): 522-529.
• 47. SanMartin S,Soto-Suazzo M, Zorn TM. Perlecan and syndecan-4 in uterine tissues during the early pregnancy in mice. Am J Reprod Immunol 2004;52(1):53-59
• 48. Zhu H, Leung PCK, MacCalman CD. Expression of ADAMTS-5/implantin in human decidual stromal cells: regulatory effects of cytokines. Human Reproduction 2007; 22(1): 63-74.
• 49. Beristain A, Zhu H, Leung PCK. Regulated expression of ADAMTS-12 in human trophoblastic cells: A role for ADAMTS-12 in epithelial cell invasion? PloS one 2011;6(4):e18473
• 50. Namli Kalem, M., Kalem, Z., Bakirarar, B., & Demircan, K. Adamts 1, 4, 5, 8, and 9 in Early Pregnancies. Fetal and pediatric pathology,2017; 36(5), 387-399.
• 51. Lee SY, Lee HS, Gil M, Kim CJ, Lee YH, Kim KR, et al. Differential expression patterns of a disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) -1, -4, -5, and -14 in human placenta and gestational trophoblastic diseases. Arch Pathol Lab Med. 2014;138:643-50.
• 52. Akins ML, Luby-Phelps K, Bank RA, Mahendroo M. Cervical softening during pregnancy: regulated changes in collagen cross-linking and composition of matricellular proteins in the mouse. Biology of reproduction2011; 84(5): 1053-1062.
• 53. Holt, R., Timmons, B. C., Akgul, Y., Akins, M. L., & Mahendroo, M. (2011). The molecular mechanisms of cervical ripening differ between term and preterm birth. Endocrinology 2011; 152(3):1036-1046.
• 54. Anum EA, Hill LD, Pandya A, Strauss III JF. Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta 2009;30:207–15.
• 55. Chaemsaithong P, Madan I, Romero R, Than NG, Tarca AL, Draghici S, et al. Characterization of the myometrial transcriptome in women with an arrest of dilatation during labor. J Perinat Med 2013;41:665–81.
• 56. Bruchova H, Vasikova A, Merkerova M, Milcova A, Topinka J, Balascak I, et al. Effect of maternal tobacco smoke exposure on the placental transcriptome. Placenta 2010;31:186–91.
• 57. Ho MM, Yoganathan P, Chu KY, Karunakaran S, Johnson JD, Clee SM. Diabetes genes identified by genome-wide association studies are regulated in mice by nutritionalfactors in metabolically relevant tissues and by glucose concentrations in islets. BMC Genet 2013;14:10.
• 58. Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008;40:638–45.
• 59. Chapman K, Seldon M, Richards R. Thrombotic microangiopathies, thrombotic thrombocytopenic purpura, and ADAMTS-13. In Seminars in thrombosis and hemostasis 2012;38 (1): 47-54.
• 60. von Auer C, von Krogh AS, Hovinga JAK, Lämmle B. Current insights into thrombotic microangiopathies: Thrombotic thrombocytopenic purpura and pregnancy. Thrombosis research 2015; 135, S30-S33.
• 61. Alpoim PN, Gomes KB, Godoi LC, Rios DR, Carvalho MG, Fernandes AP, et al. ADAMTS13, FVIII, von Willebrand factor, ABO blood group assessment in preeclampsia. Clin Chim Acta. 2011;412:2162-6.
• 62. Stepanian A, Cohen-Moatti M, Sanglier T, Legendre P, Ameziane N, Tsatsaris V, et al. Von Willebrand factor and ADAMTS13: a candidate couple for preeclampsia pathophysiology. Arterioscler Thromb Vasc Biol. 2011;31:1703-9.
• 63. Scully MA, Machin SJ. Berend Houwen Memorial Lecture: ISLH Las Vegas May 2009:the pathogenesis and management of thrombotic microangiopathies. Int J Lab Hematol. 2009;31:268-76.
• 64. Namlı Kalem, M., Kalem, Z., Yüce, T., & Soylemez, F. (2018). ADAMTS 1, 4, 12, and 13 levels in maternal blood, cord blood, and placenta in preeclampsia. Hypertension in pregnancy, 37(1), 9-17.
• 65. Oztas E, Ozler S, Ersoy AO, Erkenekli K, Sucak A, Ergin M, Danisman N. Placental ADAMTS-12 Levels in the Pathogenesis of Preeclampsia and Intrahepatic Cholestasis of Pregnancy. Reproductive Sciences 2015; 1933719115604730.
• 66. Silva, I. S. B. D., Corleta, H. V. E., Sant'Anna, G. D. S., & Czarnabay, D. (2014). Expressão gênica do gene ADAMTS-1 em tecidos de leiomioma uterino e miométrico. Clinical and biomedical research. Porto Alegre.
• 67. Brown HM, Russell DL. Blood and lymphatic vasculature in the ovary: development, function and disease. Human reproduction update 2014; 20(1): 29-39.
• 68. Alarab, M., Kufaishi, H., Lye, S., Drutz, H., & Shynlova, O. (2013). Expression of extracellular matrix-remodeling proteins is altered in vaginal tissue of premenopausal women with severe pelvic organ prolapse. Reproductive Sciences, 1933719113512529.
• 69. Connell KA, Guess MK, Andikyan V, Taylor HS. The Role of a Disintegrin and Metalloproteinase (ADAMTS-1) in USL Integrity and Pelvic Organ Prolapse. Reproductive sciences 2007; 14(1): 594.
• 70. Broder C, Arnold P, Vadon-Le Goff S, Konerding MA, Bahr K, Müller S, Becker-Pauly C. Metalloproteases meprin α and meprin β are C-and N-procollagen proteinases important for collagen assembly and tensile strength. Proceedings of the National Academy of Sciences 2013; 110(35): 14219-24.
• 71. Rocks N, Paulissen G, El Hour M, Quesada F, Crahay C, Guéders M, Cataldo D. Emerging roles of ADAM and ADAMTS metalloproteinases in cancer. Biochimie 2008; 90(2): 369-379.
• 72. Cal S, López-Otín C. ADAMTS proteases and cancer. Matrix Biology 2015; 44: 77-85.
• 73. Keightley MC, Sales KJ, Jabbour HN. PGF 2α-F-prostanoid receptor signalling via ADAMTS1 modulates epithelial cell invasion and endothelial cell function in endometrial cancer. BMC cancer 2010; 10(1): 1.
• 74. Wu Q, Lothe RA, Ahlquist T, Silins I, Trope CG, Micci F, et al. DNA methylation profiling of ovarian carcinomas and their in vitro models identifies HOXA9, HOXB5, SCGB3A1, and CRABP1 as novel targets. Mol Cancer. 2007;6:45.
• 75. Liu Y, Yasukawa M, Chen K, Hu L, Broaddus RR, Ding L, Shmulevich I. (2015). Association of Somatic Mutations of ADAMTS Genes With Chemotherapy Sensitivity and Survival in High-Grade Serous Ovarian Carcinoma. JAMA oncology 2015; 1(4): 486-494.