Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement
Yıl 2022,
Cilt: 15 Sayı: 3, 539 - 546, 01.07.2022
Nezihe Bilge Yılmaz
Pelin Ertan
,
Selçuk Yüksel
,
Nalan Neşe
,
Gönül Dinç Horasan
,
Afig Hüseyinov Berdeli
Öz
Objectives: HSP is a common small vessel vasculitis. It is the most common cause of non-thrombocytopenic purpura in childhood. The role of genes in etiopathogenesis of the disease, which has not yet been clearly elucidated, is being emphasized. Many genes called sialidases are being studied and is thought that the NEU1 gene may be particularly important in the etiopathogenesis of HSP. The aim of this study is to investigate the role of the NEU1 gene in the etiopathogenesis of HSP and its relation to renal involvement.
Materials and methods: Fifty patients followed in the Celal Bayar University Hafsa Sultan Hospital Pediatric Nephrology Department, with the diagnosis of HSP renal involvement were included into the study. For the control group, age and gender matched 50 cases were accepted among the outpatients admitted to Pediatric Department without any chronic diseases. NEU1 gene mutation analysis was performed in blood samples of both patient and control groups by using the Sanger DNA sequencing method.
Results: NEU1 genetic mutation was not detected in any HSP patient with renal involvement and control group.
Conclusion: In our study, the NEU 1 gene was not found to be associated with HSP nephritis. No changes were detected in the investigated regions of the NEU1 gene.
Destekleyen Kurum
Manisa Celal Bayar University Scientific Research Projects Coordination Unit
Proje Numarası
75602888.604.01.01-185/2187.
Kaynakça
- 1. Miller ML, Pachman LM. Vasculitis syndromes: Henoch-Schonlein purpura. in Behrman RE, Kliegman RB, Jensen HB (eds). Nelson Textbook of Pediatrics. 19th edition. Philadelphia: WB Sunders Company, 2015: 729-29.
- 2. Ozen S, Pistorio A, Iusan SM, et al. Paediatric Rheumatology International Trials Organisation (PRINTO). EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final Clasification criteria. Ann Rheum Dis, 2008; 69: 798 .
- 3. Nan X, Carubelli I, Stamatos NM. Sialidase expression in activated human T lymphocytes influences production of IFN-gamma. J. Leukoc. Biol. 2007;81(1):284-96.
- 4. Stamatos NM1, Liang F, Nan X, et al. Differential expression of endogenous sialmonocytes during cellular differentiation into macrophages. FEBS J. 2005;272(10):2545-56.
- 5. Liang F1, Seyrantepe V, Landry K, et al. Monocyte differentiation up-regulates the expression of the lysosomal sialidase, Neu1, and triggers its targeting to the plasma membrane via major histocompatibility complex class II-positive compartments. J Biol Chem. 2006,15;281(37):27526-38.
- 6. Amith SR1, Jayanth P, Franchuk S, et al. Neu1 desialylation of sialyl alpha-2,3-linked beta-galactosyl residues of TOLL-like receptor 4 is essential for receptor activation and cellular signaling. Cell Signal. 2010;22(2):314-24.
- 7. Miyagi T, Kazunori Yamaguchi. Mammalian sialidases: Physiological and pathological roles in cellular functions. Glycobiology. 2012;22(7):880-96.
- 8. Ranganath P, Vishakha Sharma, Sumita Danda, Madhusudan R Nandineni, Ashwin B Dalal. Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India. Indian J Med Res. 2012;136(6):1048-50.
- 9. Bilyy RO, Shkandina T, Tomin A. Macrophages discriminate glycosylationpatterns of apoptotic cell-derived microparticles. J Biol Chem. 2012;287(1):496-503.
- 10. Jennette JC1, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum. 2013;65(1):1-11.
- 11. Chen O, Zhu XB, Ren P, Wang YB, Sun RP, Wei DE. Henoch Schonlein Purpura in children: clinical analysis of 120 cases. Afr Health Sci. 2013; 13: 94-99.
- 12. Tabel Y, Callak Inanc F, Gumus Dogan D. Clinical features of children with Henoch-Schonlein Purpura: Risk factors associated with renal involvement. Iran J Kidney Dis, 2012; 6: 269-274.
- 13. Watson L, Richardson AR, Holt RC, Jones CA, Beresford MW. Henoch Schonlein purpura – A 5-year review and proposed pathway. PLoS ONE, 2012; 7.
- 14. Calvo-Río V, Loricera J, Mata C, et al. Henoch-Schönlein Purpura in Northern Spain: Clinical spectrum of the disease in 417 patients from a single center. Medicine (Baltimore). 2014; 93: 106-113.
- 15. Dönmez O, Sargın Yıldırım N, Durmaz O. Henoch Schönlein purpuralı 137 olgunun 10 yıllık retrospektif değerlendirilmesi. Güncel Pediatri Dergisi, 2011; 9: 63-67 .
- 16.Allen DM, Diamond LK, Howell DA. Anaphlactoid Purpura in Children (Schönlein Henoch Syndrome) Am J Dis Child. 1960; 99: 833-54 20.
- 17. Scolari F. Familial IgA nephropathy. J Nephrol 1999; 12:213–219.
- 18. Scolari F. Inherited forms of IgA nephropathy. J Nephrol 2003; 16:317–320 .
- 19. Almeida JLJ, Campos LMA, Paim LB. Renal involvement in Henoch-Schönlein purpura: a multivariate analysis of initial prognostic factors. JPediatr, 2007; 83(3): 259-266.
- 20. Counahan R, Winterborn MH, White RH, et al. Prognosis of henoch-Schönlein purpura in children. Br Med J, 1977; 2: 11.
- 21. Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003;22(5):343-52.
- 22. Jean-Сlaude D, Ineke J, Ten B, Jan J.W, 2001, What is the difference between IgA nephropathy and Henoch-Schönlein purpura nephritis, University of Amsterdam, 11p.
- 23. Salah S, Rizk S, Lotfy HM, El Houchi S, Marzouk H, Farag Y. MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. Pediatr Rheumatol Online J. 2014; 9; 12: 41.
- 24. Zeng HS, Xiong XY, Chen YY, Luo XP. Gene polymorphism of vascular endothelial growth factor in children with Henoch-Schonlein purpura nephritis. Zhongguo Dang Dai Er Ke Za Zhi. 2009;11(6):417-21.
- 25. López-Mejías R, Genre F, Remuzgo-Martínez S, et al. Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis). Arthritis Res Ther. 2015 Oct 13;17:286.
- 26. Yu HH, Liu PH, Yang YH, et al. Chemokine MCP1/CCL2 and RANTES/CCL5 gene polymorphisms influence Henoch-Schönlein purpura susceptibility and severity. J Formos Med Assoc. 2015;114(4):347-52.
- 27. Xu H, Li W, Fu H, Jiang G.Interferon-gamma gene polymorphism +874 (A/T) in Chinese children with Henoch-Schonlein purpura. Iran J Allergy Asthma Immunol. 2014;13(3):184-9.
- 28. Wang JJ, Shi YP, Huang Y, Wu C, Li XC. Zhongguo Dang Dai Er Ke Za Zhi. 2013;15(2):88-90.
- 29. Nalbantoglu S, Tabel Y, Mir S, Serdaroğlu E, Berdeli A. Association between RAS gene polymorphisms (ACE I/D, AGT M235T) and Henoch-Schönlein purpura in a Turkish population. Dis Markers. 2013;34(1):23-32.
- 30. He X, Zhao P, Kang S, et al. C1GALT1 polymorphisms are associated with Henoch-Schönlein purpura nephritis. Pediatr Nephrol. 2012;27(9):1505-9.
- 31. Calvino MC, Llorca J, García-Porrúa C, Fernández-Iglesias JL, Rodriguez-Ledo P, GonzálezGay MA. Henoch-Schönlein Purpura in children from northwestern Spain: a 20 year epidemiologic and clinical study. Medicine (Baltimore), 2001; 80: 279.
- 32. Li, G.S., Zhang, H., Lv, J.C., Shen, Y. and Wang, H-Y., 2007, Variants of C1GALT1 Gene are Associated with the Genetic Susceptibility to IgA Nephropathy, Chinese National Human Genome Center, Beijing, China, 5p.
- 33. Li GS, Zhu L, Zhang H, et al. Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy. Hum Mutat. 2007;28(10):950-7.
- 34. Salah S, Rizk S, Lotfy HM, El Houchi S, Marzouk H, Farag Y. MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. Pediatr Rheumatol Online J. 2014;12:41.
- 35. Kijimoto-Ochiai S, Matsumoto-Mizuno T, Kamimura D, et al. Existence of NEU1 sialidase on mouse thymocytes whose natural substrate is CD5. Glycobiology. 2018;28(5):306-317.
- 36. Miyagi T, Takahashi K, Yamamoto K, Shiozaki K, Yamaguchi K. Biological and Pathological Roles of Ganglioside Sialidases. Prog Mol Biol Transl Sci. 2018;156:121-150.
- 37. Zhang Z, Wuhrer M, Holst S.Serum sialylation changes in cancer. Glycoconj J. 2018;35(2):139-160.
- 38. Forcella M, Mozzi A, Stefanini FM, et al. Deregulation of sialidases in human normal and tumor tissues. Cancer Biomark. 2018;21(3):591-601.
- 39. Suzuki T. Imaging of Sialidase Activity and Its Clinical Application. Biol Pharm Bull. 2017;40(12):2015-2023.
Henoch Schönlein purpura vaskülitinde nöraminidaz-1 geni ile böbrek tutulumunun ilişkisi
Yıl 2022,
Cilt: 15 Sayı: 3, 539 - 546, 01.07.2022
Nezihe Bilge Yılmaz
Pelin Ertan
,
Selçuk Yüksel
,
Nalan Neşe
,
Gönül Dinç Horasan
,
Afig Hüseyinov Berdeli
Öz
Amaç: Henoch-Schönlein Purpura (HSP) yaygın bir küçük damar vaskülitidir. Çocukluk çağında trombositopenik olmayan purpuraların en sık nedenidir. Hastalığın etyopatogenezi henüz net olarak aydınlatılmamış olmakla beraber genlerin rolü üzerinde durulmaktadır. Sialidazlar adı verilen birçok gen üzerinde çalışılmakta ve nöraminidaz 1 (NEU1) geninin HSP etyopatogenezinde özellikle önemli olabileceği düşünülmektedir. Bu çalışmanın amacı, NEU1 geninin HSP etyopatogenezindeki rolünü ve böbrek tutulumu ile ilişkisini araştırmaktır.
Gereç ve yöntem: Celal Bayar Üniversitesi Hafsa Sultan Hastanesi Çocuk Nefroloji Kliniği'nde HSP böbrek tutulumu tanısı ile takip edilen 50 hasta çalışmaya dahil edildi. Kontrol grubu olarak, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı polikliniğine herhangi bir kronik hastalığı olmayan hasta grubu ile yaş ve cinsiyet uyumlu 50 olgu kabul edildi. Hasta ve kontrol gruplarının kan örneklerinde NEU1 gen mutasyon analizi yapıldı.
Bulgular: Böbrek tutulumu olan HSP hastalarında ve kontrol grubunda NEU1 genetik mutasyonu saptanmadı.
Sonuç: Çalışmamızda NEU1 geninin HSP nefriti ile ilişkisi bulunmamıştır. NEU1 geninin araştırılan bölgelerinde herhangi bir değişiklik tespit edilmemiştir. Daha geniş hasta sayısıyla çalışılmasına ihtiyaç vardır.
Proje Numarası
75602888.604.01.01-185/2187.
Kaynakça
- 1. Miller ML, Pachman LM. Vasculitis syndromes: Henoch-Schonlein purpura. in Behrman RE, Kliegman RB, Jensen HB (eds). Nelson Textbook of Pediatrics. 19th edition. Philadelphia: WB Sunders Company, 2015: 729-29.
- 2. Ozen S, Pistorio A, Iusan SM, et al. Paediatric Rheumatology International Trials Organisation (PRINTO). EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final Clasification criteria. Ann Rheum Dis, 2008; 69: 798 .
- 3. Nan X, Carubelli I, Stamatos NM. Sialidase expression in activated human T lymphocytes influences production of IFN-gamma. J. Leukoc. Biol. 2007;81(1):284-96.
- 4. Stamatos NM1, Liang F, Nan X, et al. Differential expression of endogenous sialmonocytes during cellular differentiation into macrophages. FEBS J. 2005;272(10):2545-56.
- 5. Liang F1, Seyrantepe V, Landry K, et al. Monocyte differentiation up-regulates the expression of the lysosomal sialidase, Neu1, and triggers its targeting to the plasma membrane via major histocompatibility complex class II-positive compartments. J Biol Chem. 2006,15;281(37):27526-38.
- 6. Amith SR1, Jayanth P, Franchuk S, et al. Neu1 desialylation of sialyl alpha-2,3-linked beta-galactosyl residues of TOLL-like receptor 4 is essential for receptor activation and cellular signaling. Cell Signal. 2010;22(2):314-24.
- 7. Miyagi T, Kazunori Yamaguchi. Mammalian sialidases: Physiological and pathological roles in cellular functions. Glycobiology. 2012;22(7):880-96.
- 8. Ranganath P, Vishakha Sharma, Sumita Danda, Madhusudan R Nandineni, Ashwin B Dalal. Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India. Indian J Med Res. 2012;136(6):1048-50.
- 9. Bilyy RO, Shkandina T, Tomin A. Macrophages discriminate glycosylationpatterns of apoptotic cell-derived microparticles. J Biol Chem. 2012;287(1):496-503.
- 10. Jennette JC1, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum. 2013;65(1):1-11.
- 11. Chen O, Zhu XB, Ren P, Wang YB, Sun RP, Wei DE. Henoch Schonlein Purpura in children: clinical analysis of 120 cases. Afr Health Sci. 2013; 13: 94-99.
- 12. Tabel Y, Callak Inanc F, Gumus Dogan D. Clinical features of children with Henoch-Schonlein Purpura: Risk factors associated with renal involvement. Iran J Kidney Dis, 2012; 6: 269-274.
- 13. Watson L, Richardson AR, Holt RC, Jones CA, Beresford MW. Henoch Schonlein purpura – A 5-year review and proposed pathway. PLoS ONE, 2012; 7.
- 14. Calvo-Río V, Loricera J, Mata C, et al. Henoch-Schönlein Purpura in Northern Spain: Clinical spectrum of the disease in 417 patients from a single center. Medicine (Baltimore). 2014; 93: 106-113.
- 15. Dönmez O, Sargın Yıldırım N, Durmaz O. Henoch Schönlein purpuralı 137 olgunun 10 yıllık retrospektif değerlendirilmesi. Güncel Pediatri Dergisi, 2011; 9: 63-67 .
- 16.Allen DM, Diamond LK, Howell DA. Anaphlactoid Purpura in Children (Schönlein Henoch Syndrome) Am J Dis Child. 1960; 99: 833-54 20.
- 17. Scolari F. Familial IgA nephropathy. J Nephrol 1999; 12:213–219.
- 18. Scolari F. Inherited forms of IgA nephropathy. J Nephrol 2003; 16:317–320 .
- 19. Almeida JLJ, Campos LMA, Paim LB. Renal involvement in Henoch-Schönlein purpura: a multivariate analysis of initial prognostic factors. JPediatr, 2007; 83(3): 259-266.
- 20. Counahan R, Winterborn MH, White RH, et al. Prognosis of henoch-Schönlein purpura in children. Br Med J, 1977; 2: 11.
- 21. Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003;22(5):343-52.
- 22. Jean-Сlaude D, Ineke J, Ten B, Jan J.W, 2001, What is the difference between IgA nephropathy and Henoch-Schönlein purpura nephritis, University of Amsterdam, 11p.
- 23. Salah S, Rizk S, Lotfy HM, El Houchi S, Marzouk H, Farag Y. MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. Pediatr Rheumatol Online J. 2014; 9; 12: 41.
- 24. Zeng HS, Xiong XY, Chen YY, Luo XP. Gene polymorphism of vascular endothelial growth factor in children with Henoch-Schonlein purpura nephritis. Zhongguo Dang Dai Er Ke Za Zhi. 2009;11(6):417-21.
- 25. López-Mejías R, Genre F, Remuzgo-Martínez S, et al. Role of PTPN22 and CSK gene polymorphisms as predictors of susceptibility and clinical heterogeneity in patients with Henoch-Schönlein purpura (IgA vasculitis). Arthritis Res Ther. 2015 Oct 13;17:286.
- 26. Yu HH, Liu PH, Yang YH, et al. Chemokine MCP1/CCL2 and RANTES/CCL5 gene polymorphisms influence Henoch-Schönlein purpura susceptibility and severity. J Formos Med Assoc. 2015;114(4):347-52.
- 27. Xu H, Li W, Fu H, Jiang G.Interferon-gamma gene polymorphism +874 (A/T) in Chinese children with Henoch-Schonlein purpura. Iran J Allergy Asthma Immunol. 2014;13(3):184-9.
- 28. Wang JJ, Shi YP, Huang Y, Wu C, Li XC. Zhongguo Dang Dai Er Ke Za Zhi. 2013;15(2):88-90.
- 29. Nalbantoglu S, Tabel Y, Mir S, Serdaroğlu E, Berdeli A. Association between RAS gene polymorphisms (ACE I/D, AGT M235T) and Henoch-Schönlein purpura in a Turkish population. Dis Markers. 2013;34(1):23-32.
- 30. He X, Zhao P, Kang S, et al. C1GALT1 polymorphisms are associated with Henoch-Schönlein purpura nephritis. Pediatr Nephrol. 2012;27(9):1505-9.
- 31. Calvino MC, Llorca J, García-Porrúa C, Fernández-Iglesias JL, Rodriguez-Ledo P, GonzálezGay MA. Henoch-Schönlein Purpura in children from northwestern Spain: a 20 year epidemiologic and clinical study. Medicine (Baltimore), 2001; 80: 279.
- 32. Li, G.S., Zhang, H., Lv, J.C., Shen, Y. and Wang, H-Y., 2007, Variants of C1GALT1 Gene are Associated with the Genetic Susceptibility to IgA Nephropathy, Chinese National Human Genome Center, Beijing, China, 5p.
- 33. Li GS, Zhu L, Zhang H, et al. Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy. Hum Mutat. 2007;28(10):950-7.
- 34. Salah S, Rizk S, Lotfy HM, El Houchi S, Marzouk H, Farag Y. MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. Pediatr Rheumatol Online J. 2014;12:41.
- 35. Kijimoto-Ochiai S, Matsumoto-Mizuno T, Kamimura D, et al. Existence of NEU1 sialidase on mouse thymocytes whose natural substrate is CD5. Glycobiology. 2018;28(5):306-317.
- 36. Miyagi T, Takahashi K, Yamamoto K, Shiozaki K, Yamaguchi K. Biological and Pathological Roles of Ganglioside Sialidases. Prog Mol Biol Transl Sci. 2018;156:121-150.
- 37. Zhang Z, Wuhrer M, Holst S.Serum sialylation changes in cancer. Glycoconj J. 2018;35(2):139-160.
- 38. Forcella M, Mozzi A, Stefanini FM, et al. Deregulation of sialidases in human normal and tumor tissues. Cancer Biomark. 2018;21(3):591-601.
- 39. Suzuki T. Imaging of Sialidase Activity and Its Clinical Application. Biol Pharm Bull. 2017;40(12):2015-2023.