Андрология и генитальная хирургия. 2023; 24: 23-32
Генетические предикторы болезни Пейрони: обзор литературы
https://doi.org/10.17650/2070-9781-2023-24-3-23-32Аннотация
Болезнь Пейрони (БП) – заболевание, встречающееся у мужчин разного возраста, характеризующееся образованием в белочной оболочке полового члена доброкачественных фиброзных бляшек. Несмотря на то что сведения о эпидемиологии, этиологии и патогенезе БП противоречивы, выявлен ряд ассоциированных с ней заболеваний и семейные случаи БП, что наталкивает на мысль о возможной генетической предрасположенности к развитию данного заболевания. Исследований генетических факторов и молекулярных маркеров, связанных с риском развития БП, недостаточно, и результаты их неоднозначны. В данном обзоре литературы рассмотрены наиболее изученные потенциальные генетические факторы – предикторы БП, а именно: трансформирующий фактор роста β1, миостатин, матриксные металлопротеиназы, белковые факторы, вовлеченные в Wnt-сигнальный путь, белки главного комплекса гистосовместимости, микроРНК (MiR-29b). Расширение возможностей ранней диагностики таких многофакторных заболеваний, как БП, позволит улучшить оценку риска их развития и эффективность лечения.
Список литературы
1. Hellstrom W.J., Feldman R., Rosen R.C. et al. Bother and distress associated with Peyronie’s disease: validation of the Peyronie’s disease questionnaire. J Urol 2013;190(2):627–34. DOI: 10.1016/j.juro.2013.01.090
2. Tal R., Hall M.S., Alex B. et al. Peyronie’s disease in teenagers. J Sex Med 2012;9(1):302–8. DOI: 10.1111/j.1743-6109.2011.02502.x
3. Stuntz M., Perlaky A., des Vignes F. et al. The prevalence of Peyronie’s disease in the United States: a population-based study. PloS One 2016;11(2):e0150157. DOI: 10.1371/journal.pone.0150157
4. Moreno S.A., Morgentaler A. Testosterone deficiency and Peyronie’s disease: pilot data suggesting a significant relationship. J Sex Med 2009;6(6):1729–35. DOI: 10.1111/j.1743-6109.2009.01250.x
5. Al-Thakafi S., Al-Hathal N. Peyronie’s disease: a literature review on epidemiology, genetics, pathophysiology, diagnosis and work-up. Transl Androl Urol 2016;5(3):280–9. DOI: 10.21037/tau.2016.04.05
6. Habous M., Malkawi I., Han E. et al. Peyronie’s disease is common in poorly controlled diabetics but is not associated with the metabolic syndrome. Urol Ann 2019;11(3):252–6. DOI: 10.4103/UA.UA_164_18
7. Schneider D., Afyouni A.S., Yafi F.A. Peyronie’s disease and testosterone: a narrative review. Androg Clin Res Ther 2022;3(1):105–12. DOI: 10.1089/andro.2021.0027
8. Can O., Özbir S., Atalay H.A. et al. The relationship between testosterone levels and Peyronie’s disease. Andrologia 2020;52(9):e13727. DOI: 10.1111/and.13727
9. Ширин Г.В., Федорова Н.А. Болезнь Пейрони и первый опыт использования Пейрофлекса®. Вестник урологии 2021;9(2):150–6. DOI: 10.21886/2308-6424-2021-9-2-150-156
10. Shindel A.W., Sweet G., Thieu W. et al. Prevalence of Peyronie’s disease-like symptoms in men presenting with Dupuytren contractures. Sex Med 2017;5(3):e135–e41. DOI: 10.1016/j.esxm.2017.06.001
11. Akbal C., Tanidir Y., Ozgen M.B., Simşek F. Erectile dysfunction and Peyronie’s disease in patient with retroperitoenal fibrosis. Int Urol Nephrol 2008;40(4):971–5. DOI: 10.1007/s11255-008-9381-4
12. Tal R., Heck M., Teloken P. et al. Peyronie’s disease following radical prostatectomy: incidence and predictors. J Sex Med 2010;7(3):1254–61. DOI:10.1111/j.1743-6109.2009.01655.x
13. EAU Guidelines. Edn. presented at the EAU Annual Congress, Milan, 2023.
14. Krakhotkin D.V., Chernylovskyi V.A., Mottrie A. et al. New insights into the pathogenesis of Peyronie’s disease: a narrative review. Chronic Dis Transl Med 2020;6(3):165–81. DOI: 10.1016/j.cdtm.2020.06.001
15. Herati A.S., Pastuszak A.W. The genetic basis of Peyronie disease: a review. Sex Med Rev 2016;4(1):85–94. DOI: 10.1016/j.sxmr.2015.10.002
16. Gabrielsen J.S. Peyronie’s disease: is it genetic or not? Transl Androl Urol 2020;9(Suppl2):S262–S8. DOI: 10.21037/tau.2019.10.21
17. Sharma K.L., Alom M., Trost L. The etiology of Peyronie’s disease: pathogenesis and genetic contributions. Sex Med Rev 2020;8(2): 314–23. DOI: 10.1016/j.sxmr.2019.06.004
18. Dolmans G.H., Werker P.M., de Jong I.J. et al. WNT2 locus is involved in genetic susceptibility of Peyronie’s disease. J Sex Med 2012;9(5):1430–4. DOI: 10.1111/j.1743-6109.2012.02704.x
19. Sergovich F.R., Botz J.S., McFarlane R.M. Nonrandom cytogenetic abnormalities in Dupuytren’s disease. N Engl J Med 1983;308(3):162–3. PMID: 6848917.
20. Dal Cin P., De Smet L., Sciot R. et al. Trisomy 7 and trisomy 8 in dividing and non-dividing tumor cells in Dupuytren’s disease. Cancer Genet Cytogenet 1999;108(2):137–40. DOI: 10.1016/s0165-4608(98)00126-5
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22. Nyberg L.M. Jr., Bias W.B., Hochberg M.C. et al. Identification of an inherited form of Peyronie’s disease with autosomal dominant inheritance and association with Dupuytren’s contracture and histocompatibility B7 cross-reacting antigens. J Urol 1982;128(1):48–51. DOI: 10.1016/s0022-5347(17)52751-2
23. Nugteren H.M., Nijman J.M., de Jong I.J., van Driel M.F. The association between Peyronie’s and Dupuytren’s disease. Int J Impot Res 2011;23(4):142–5. DOI: 10.1038/ijir.2011.18
24. Allen-Brady K.L., Christensen M.B., Sandberg A.D., Pastuszak A.W. Significant familial clustering of Peyronie’s disease in close and distant relatives. Andrology 2022;10(7):1361–7. DOI: 10.1111/andr.13223
25. Perinchery G., El-Sakka A.I., Angan A. et al. Microsatellite alterations and loss of heterozygosity in Peyronie’s disease. J Urol 2000;164(3 Pt 1):842–6. DOI: 10.1097/00005392-200009010-00059
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27. Gonzalez-Cadavid N.F., Magee T.R., Ferrini M. et al. Gene expression in Peyronie’s disease. Int J Impot Res 2002;14(5):361–74. DOI: 10.1038/sj.ijir.3900873
28. Dullea A., Efimenko I., Firdaus F. et al. Whole-genome sequencing identifies novel heterozygous mutation in ALMS1 in three men with both Peyronie’s and Dupuytren’s Disease. Urology 2022;166:76–8. DOI: 10.1016/j.urology.2022.02.023
29. Moses H.L., Roberts A.B., Derynck R. The discovery and early days of TGF-β: a historical perspective. Cold Spring Harbor Perspect Biol 2016;8(7):a021865. DOI: 10.1101/cshperspect.a021865
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31. Papageorgis P. TGFβ signaling in tumor initiation, epithelial-to-mesenchymal transition, and metastasis. J Oncol 2015;2015:587193. DOI: 10.1155/2015/587193
32. Hassoba H., El-Sakka A., Lue T. Role of increased transforming growth factor beta protein expression in the pathogenesis of Peyronie’s disease. Egypt J Immunol 2005;12(1):1–8. PMID: 16734133.
33. Piao S., Choi M.J., Tumurbaatar M. et al. Transforming growth factor (TGF)-β type I receptor kinase (ALK5) inhibitor alleviates profibrotic TGF-β1 responses in fibroblasts derived from Peyronie’s plaque. J Sex Med 2010;7(10):3385–95. DOI: 10.1111/j.1743-6109.2010.01753.x
34. Wang J., Xiang H., Lu Y., Wu T. Role and clinical significance of TGF-β1 and TGF-βR1 in malignant tumors (Review). Int J Mol Med 2021;47(4):55. DOI: 10.3892/ijmm.2021.4888
35. Biernacka A., Dobaczewski M., Frangogiannis N.G. TGF-β signaling in fibrosis. Growth Factors (Chur, Switzerland) 2011;29(5):196–202. DOI: 10.3109/08977194.2011.595714
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Andrology and Genital Surgery. 2023; 24: 23-32
Genetic predictors of Peyronie’s disease: review
https://doi.org/10.17650/2070-9781-2023-24-3-23-32Abstract
Peyronie’s disease (PD) is a benign fibrous lesion in the albuginea of the penis that can occur in men of various ages. Despite the fact that epidemiological and pathophysiological data on PD are contradictory, there are a number of comorbidities that suggest a genetic predisposition to this pathology. Genetic and molecular studies of PD are insufficient and their results are often contradictory. This literature review will consider the most studied and potential genetic predictors of PD, namely: transforming growth factor β1, myostatin, matrix metalloproteinases, Wnt signaling pathway, microRNAs (MiR-29b), major histocompatibility complex proteins (human leukocyte antigen). Expanding the possibilities of early diagnosis of the disease will increase the effectiveness of the treatment.
References
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2. Tal R., Hall M.S., Alex B. et al. Peyronie’s disease in teenagers. J Sex Med 2012;9(1):302–8. DOI: 10.1111/j.1743-6109.2011.02502.x
3. Stuntz M., Perlaky A., des Vignes F. et al. The prevalence of Peyronie’s disease in the United States: a population-based study. PloS One 2016;11(2):e0150157. DOI: 10.1371/journal.pone.0150157
4. Moreno S.A., Morgentaler A. Testosterone deficiency and Peyronie’s disease: pilot data suggesting a significant relationship. J Sex Med 2009;6(6):1729–35. DOI: 10.1111/j.1743-6109.2009.01250.x
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17. Sharma K.L., Alom M., Trost L. The etiology of Peyronie’s disease: pathogenesis and genetic contributions. Sex Med Rev 2020;8(2): 314–23. DOI: 10.1016/j.sxmr.2019.06.004
18. Dolmans G.H., Werker P.M., de Jong I.J. et al. WNT2 locus is involved in genetic susceptibility of Peyronie’s disease. J Sex Med 2012;9(5):1430–4. DOI: 10.1111/j.1743-6109.2012.02704.x
19. Sergovich F.R., Botz J.S., McFarlane R.M. Nonrandom cytogenetic abnormalities in Dupuytren’s disease. N Engl J Med 1983;308(3):162–3. PMID: 6848917.
20. Dal Cin P., De Smet L., Sciot R. et al. Trisomy 7 and trisomy 8 in dividing and non-dividing tumor cells in Dupuytren’s disease. Cancer Genet Cytogenet 1999;108(2):137–40. DOI: 10.1016/s0165-4608(98)00126-5
21. Casalone R., Mazzola D., Meroni E. et al. Cytogenetic and interphase cytogenetic analyses reveal chromosome instability but no clonal trisomy 8 in Dupuytren contracture. Cancer Genet Cytogenet 1997;99(1):73–6. DOI: 10.1016/s0165-4608(96)00430-x
22. Nyberg L.M. Jr., Bias W.B., Hochberg M.C. et al. Identification of an inherited form of Peyronie’s disease with autosomal dominant inheritance and association with Dupuytren’s contracture and histocompatibility B7 cross-reacting antigens. J Urol 1982;128(1):48–51. DOI: 10.1016/s0022-5347(17)52751-2
23. Nugteren H.M., Nijman J.M., de Jong I.J., van Driel M.F. The association between Peyronie’s and Dupuytren’s disease. Int J Impot Res 2011;23(4):142–5. DOI: 10.1038/ijir.2011.18
24. Allen-Brady K.L., Christensen M.B., Sandberg A.D., Pastuszak A.W. Significant familial clustering of Peyronie’s disease in close and distant relatives. Andrology 2022;10(7):1361–7. DOI: 10.1111/andr.13223
25. Perinchery G., El-Sakka A.I., Angan A. et al. Microsatellite alterations and loss of heterozygosity in Peyronie’s disease. J Urol 2000;164(3 Pt 1):842–6. DOI: 10.1097/00005392-200009010-00059
26. Qian A., Meals R.A., Rajfer J. et al. Comparison of gene expression profiles between Peyronie’s disease and Dupuytren’s contracture. Urology 2004;64(2):399–404. DOI: 10.1016/j.urology.2004.04.006
27. Gonzalez-Cadavid N.F., Magee T.R., Ferrini M. et al. Gene expression in Peyronie’s disease. Int J Impot Res 2002;14(5):361–74. DOI: 10.1038/sj.ijir.3900873
28. Dullea A., Efimenko I., Firdaus F. et al. Whole-genome sequencing identifies novel heterozygous mutation in ALMS1 in three men with both Peyronie’s and Dupuytren’s Disease. Urology 2022;166:76–8. DOI: 10.1016/j.urology.2022.02.023
29. Moses H.L., Roberts A.B., Derynck R. The discovery and early days of TGF-β: a historical perspective. Cold Spring Harbor Perspect Biol 2016;8(7):a021865. DOI: 10.1101/cshperspect.a021865
30. Baba A.B., Rah B., Bhat G.R. et al. Transforming growth factor-beta (TGF-β) signaling in cancer – a betrayal within. Front Pharmacol 2022;13:791272. DOI: 10.3389/fphar.2022.791272
31. Papageorgis P. TGFβ signaling in tumor initiation, epithelial-to-mesenchymal transition, and metastasis. J Oncol 2015;2015:587193. DOI: 10.1155/2015/587193
32. Hassoba H., El-Sakka A., Lue T. Role of increased transforming growth factor beta protein expression in the pathogenesis of Peyronie’s disease. Egypt J Immunol 2005;12(1):1–8. PMID: 16734133.
33. Piao S., Choi M.J., Tumurbaatar M. et al. Transforming growth factor (TGF)-β type I receptor kinase (ALK5) inhibitor alleviates profibrotic TGF-β1 responses in fibroblasts derived from Peyronie’s plaque. J Sex Med 2010;7(10):3385–95. DOI: 10.1111/j.1743-6109.2010.01753.x
34. Wang J., Xiang H., Lu Y., Wu T. Role and clinical significance of TGF-β1 and TGF-βR1 in malignant tumors (Review). Int J Mol Med 2021;47(4):55. DOI: 10.3892/ijmm.2021.4888
35. Biernacka A., Dobaczewski M., Frangogiannis N.G. TGF-β signaling in fibrosis. Growth Factors (Chur, Switzerland) 2011;29(5):196–202. DOI: 10.3109/08977194.2011.595714
36. Frangogiannis N. Transforming growth factor-β in tissue fibrosis. J Exp Med 2020;217(3):e20190103. DOI: 10.1084/jem.20190103
37. Eftimie R., Brenner H.R., Buonanno A. Myogenin and MyoD join a family of skeletal muscle genes regulated by electrical activity. Proc Natl Acad Sci U S A 1991;88(4):1349–53. DOI: 10.1073/pnas.88.4.1349
38. Cantini L.P., Ferrini M.G., Vernet D. et al. Profibrotic role of myostatin in Peyronie’s disease. J Sex Med 2008;5(7):1607–22. DOI: 10.1111/j.1743-6109.2008.00847.x
39. Chen M.M., Zhao Y.P., Zhao Y. et al. Regulation of myostatin on the growth and development of skeletal muscle. Front Cell Dev Biol 2021;9:785712. DOI: 10.3389/fcell.2021.785712
40. Beutel B., Song J., Konken C.P. et al. New in vivo compatible matrix metalloproteinase (MMP)-2 and MMP-9 inhibitors. Bioconjug Chem 2018;29(11):3715–25. DOI: 10.1021/acs.bioconjchem.8b00618
41. Bormann T., Maus R., Stolper J. et al. Role of matrix metalloprotease-2 and MMP-9 in experimental lung fibrosis in mice. Respir Res 2022;23(1):180. DOI: 10.1186/s12931-022-02105-7
42. Cohen D.J., Reynaldo W.V., Borba V.B. et al. New in vivo model to assess macroscopic, histological, and molecular changes in Peyronie’s disease. Andrology 2022;10(1):154–65. DOI: 10.1111/andr.13092
43. Rompel R., Mueller-Eckhardt G., Schroeder-Printzen I. et al. HLA antigens in Peyronie’s disease. Urol Int 1994;52(1):34–7. DOI: 10.1159/000282566
44. Cushing L., Kuang P.P., Qian J. et al. miR-29 is a major regulator of genes associated with pulmonary fibrosis. Am J Respir Cell Mol Biol 2011;45(2):287–94. DOI: 10.1165/rcmb.2010-0323OC
45. Dos Santos V.G., Dos Santos G.A., Neto C.B. et al. Downregulation of miR-29b is associated with Peyronie’s disease. Urologia 2022;89(3):451–5. DOI: 10.1177/03915603211036628
46. Ten Dam E.P.M., van Driel M.F., de Jong I.J. et al. Glimpses into the molecular pathogenesis of Peyronie’s disease. Aging Male 2020;23(5):962–70. DOI: 10.1080/13685538.2019.1643311
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