Yıl: 2022 Cilt: 15 Sayı: 3 Sayfa Aralığı: 539 - 546 Metin Dili: İngilizce DOI: 10.31362/patd.1021975 İndeks Tarihi: 19-04-2023

Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement

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. 
Anahtar Kelime: HSP vasculitis Nephritis NEU1 gen Immunoglobulin A1 (IgA1) nonthrombocytopenic purpura

Henoch Schönlein purpura vaskülitinde nöraminidaz-1 geni ile böbrek tutulumunun ilişkisi

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.
Anahtar Kelime: HSP vasküliti Nefrit NEU1 geni Immunglobulin A1 (IgA1) trombositopenik olmayan purpura

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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  • 1. Miller ML, Pachman LM. Vasculitis syndromes: Henoch-Schönlein purpura. in Behrman RE, Kliegman RB, Jensen HB (eds). Nelson Textbook of Pediatrics. 19th edition. Philadelphia: WB Sunders Company, 2015:729.
  • 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 2010;69:798-806. https://doi.org/10.1136/ard.2009.116657
  • 3. Nan X, Carubelli I, Stamatos NM. Sialidase expression in activated human T lymphocytes influences production of IFN-gamma. J. Leukoc Biol 2007;81:284- 296. https://doi.org/10.1189/jlb.1105692
  • 4. Stamatos NM, Liang F, Nan X, et al. Differential expression of endogenous sialidases of human monocytes during cellular differentiation into macrophages. FEBS J 2005;272:2545-2556. https:// doi.org/10.1111/j.1742-4658.2005.04679.x
  • 5. Liang F, 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;281:27526-27538. https://doi.org/10.1074/jbc. M605633200
  • 6. Amith SR, 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;22:314-324. https://doi.org/10.1016/j. cellsig.2009.09.038
  • 7. Miyagi T, Yamaguchi K. Mammalian sialidases: physiological and pathological roles in cellular functions. Glycobiology 2012;22:880-896. https://doi. org/10.1093/glycob/cws057
  • 8. Ranganath P, Sharma V, Danda S, Nandineni MR, Dalal AB. Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India. Indian J Med Res 2012;136:1048-1050.
  • 9. Bilyy RO, Shkandina T, Tomin A, et al. Macrophages discriminate glycosylation patterns of apoptotic cell- derived microparticles. J Biol Chem 2012;287:496-503. https://doi.org/10.1074/jbc.M111.273144
  • 10. Jennette JC, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum 2013;65:1-11. https://doi.org/10.1002/art.37715
  • 11. Sekijima Y, Nakamura K, Kishida D, et al. Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene. Intern Med 2013;52:119-124. https://doi.org/10.2169/ internalmedicine.52.8901
  • 12. Chen O, Zhu XB, Ren P, Wang YB, Sun RP, Wei DE. Henoch Schönlein Purpura in children: clinical analysis of 120 cases. Afr Health Sci 2013;13:94-99. https://doi. org/10.4314/ahs.v13i1.26
  • 13. Tabel Y, Callak Inanc F, Gumus Dogan D, Elmas AT. Clinical features of children with Henoch-Schönlein purpura: risk factors associated with renal involvement. Iran J Kidney Dis 2012;6:269-274.
  • 14. Watson L, Richardson ARW, Holt RCL, Jones CA, Beresford MW. Henoch Schönlein purpura -- a 5-year review and proposed pathway. PLoS One 2012;7:e29512. https://doi.org/10.1371/journal. pone.0029512
  • 15. 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. https://doi. org/10.1097/MD.0000000000000019
  • 16. Dönmez O, Sargın Yıldırım N, Durmaz O. Henoch Schönlein purpuralı 137 olgunun 10 yıllık retrospektif değerlendirilmesi. Güncel Pediatri Dergisi 2011;9:63- 67.
  • 17. Allen DM, Diamond LK, Howell DA. Anaphlactoid purpura in Children (Schönlein Henoch Syndrome). Review with a follow-up of the renal complications. Am J Dis Child 1960;99:833-854. https://doi.org/10.1001/ archpedi.1960.02070030835021
  • 18. Scolari F. Familial IgA nephropathy. J Nephrol 1999;12:213-219.
  • 19. Scolari F. Inherited forms of IgA nephropathy. J Nephrol 2003;16:317-320.
  • 20. De Almeida JLJ, Campos LMA, Paim LB, Leone C, Koch VHK, Silva CAA. Renal involvement in Henoch- Schönlein purpura: a multivariate analysis of initial prognostic factors. J Pediatr 2007;83:259-266. https:// doi.org/10.2223/JPED.1638
  • 21. Counahan R, Winterborn MH, White RH, et al. Prognosis of Henoch-Schönlein nephritis in children. Br Med J 1977;2:11-14. https://doi.org/10.1136/ bmj.2.6078.11
  • 22. Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat 2003;22:343-352. https:// doi.org/10.1002/humu.10268
  • 23. Davin JC, Ten Berge IJ, Weening JJ. What is the difference between IgA nephropathy and Henoch-Schönlein purpura nephritis? Kidney Int 2001;59:823-834. https://doi.org/10.1046/j.1523- 1755.2001.059003823.x
  • 24. Salah S, Rizk S, Lotfy HM, El Houchi S, Marzouk H, Farag Y. MEFV gene mutations in Egyptian children with Henoch-Schönlein purpura. Pediatr Rheumatol Online J 2014;12:41. https://doi.org/10.1186/1546- 0096-12-41
  • 25. Zeng HS, Xiong XY, Chen YY, Luo XP. Gene polymorphism of vascular endothelial growth factor in children with Henoch-Schönlein purpura nephritis. Zhongguo Dang Dai Er Ke Za Zhi 2009;11:417-421.
  • 26. 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;17:286. https://doi. org/10.1186/s13075-015-0796-x
  • 27. 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;114:347-352. https://doi.org/10.1016/j.jfma.2012.12.007
  • 28. Xu H, Li W, Fu H, Jiang G. Interferon-gamma gene polymorphism +874 (A/T) in Chinese children with Henoch-Schönlein purpura. Iran J Allergy Asthma Immunol 2014;13:184-189.
  • 29. Wang JJ, Shi YP, Huang Y, Wu C, Li XC. Association of tumor necrosis factor-alpha gene polymorphisms Henoch- Schönlein purpura nephritis in children. Zhongguo Dang Dai Er Ke Za Zhi 2013;15:88-90.
  • 30. 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;34:23-32. https:// doi.org/10.3233/DMA-2012-120946
  • 31. He X, Zhao P, Kang S, et al. C1GALT1 polymorphisms are associated with Henoch-Schönlein purpura nephritis. Pediatr Nephrol 2012;27:1505-1509. https:// doi.org/10.1007/s00467-012-2178-9
  • 32. Li GS, Zhang H, Lv JC, Shen Y, Wang HY. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. Kidney Int 2007;71:448-453. https://doi.org/10.1038/ sj.ki.5002088
  • 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;28:950-957. https://doi. org/10.1002/humu.20543
  • 34. Calvino MC, Llorca J, García Porrúa C, Fernández Iglesias JL, Rodriguez Ledo P, González Gay MA. Henoch-Schönlein purpura in children from northwestern Spain: a 20 year epidemiologic and clinical study. Medicine (Baltimore) 2001;80:279-290. https://doi.org/10.1097/00005792-200109000-00001
  • 35. Salah S, Rizk S, Lotfy HM, El Houchi S, Marzouk H, Farag Y. MEFV gene mutations in Egyptian children with Henoch-Schönlein purpura. Pediatr Rheumatol Online J 2014;12:41. https://doi.org/10.1186/1546- 0096-12-41
  • 36. Kijimoto Ochiai S, Matsumoto Mizuno T, Kamimura D, et al. Existence of NEU1 sialidase on mouse thymocytes whose natural substrate is CD5. Glycobiology 2018;28:306-317. https://doi.org/10.1093/glycob/ cwy009
  • 37. 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. https://doi.org/10.1016/ bs.pmbts.2017.12.005
  • 38. Zhang Z, Wuhrer M, Holst S. Serum sialylation changes in cancer. Glycoconj J 2018;35:139-160. https://doi. org/10.1007/s10719-018-9820-0
  • 39. Forcella M, Mozzi A, Stefanini FM, et al. Deregulation of sialidases in human normal and tumor tissues. Cancer Biomark 2018;21:591-601. https://doi.org/10.3233/ CBM-170548
  • 40. Suzuki T. Imaging of sialidase activity and its clinical application. Biol Pharm Bull 2017;40:2015-2023. https://doi.org/10.1248/bpb.b17-00592
  • 41. Koskela M, Nihtilä J, Ylinen E, et al. HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schönlein purpura nephritis in Finnish pediatric population: a genome-wide association study. Pediatr Nephrol 2021;36:2311-2318. https://doi.org/10.1007/s00467- 021-04955-7
APA Bahçeci N, Ertan P, YUKSEL S, NESE N, Dinç Horasan G, Berdeli a (2022). Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. , 539 - 546. 10.31362/patd.1021975
Chicago Bahçeci Nezihe bilge,Ertan Pelin,YUKSEL SELCUK,NESE NALAN,Dinç Horasan Gönül,Berdeli afig Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. (2022): 539 - 546. 10.31362/patd.1021975
MLA Bahçeci Nezihe bilge,Ertan Pelin,YUKSEL SELCUK,NESE NALAN,Dinç Horasan Gönül,Berdeli afig Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. , 2022, ss.539 - 546. 10.31362/patd.1021975
AMA Bahçeci N,Ertan P,YUKSEL S,NESE N,Dinç Horasan G,Berdeli a Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. . 2022; 539 - 546. 10.31362/patd.1021975
Vancouver Bahçeci N,Ertan P,YUKSEL S,NESE N,Dinç Horasan G,Berdeli a Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. . 2022; 539 - 546. 10.31362/patd.1021975
IEEE Bahçeci N,Ertan P,YUKSEL S,NESE N,Dinç Horasan G,Berdeli a "Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement." , ss.539 - 546, 2022. 10.31362/patd.1021975
ISNAD Bahçeci, Nezihe bilge vd. "Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement". (2022), 539-546. https://doi.org/10.31362/patd.1021975
APA Bahçeci N, Ertan P, YUKSEL S, NESE N, Dinç Horasan G, Berdeli a (2022). Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. Pamukkale Tıp Dergisi, 15(3), 539 - 546. 10.31362/patd.1021975
Chicago Bahçeci Nezihe bilge,Ertan Pelin,YUKSEL SELCUK,NESE NALAN,Dinç Horasan Gönül,Berdeli afig Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. Pamukkale Tıp Dergisi 15, no.3 (2022): 539 - 546. 10.31362/patd.1021975
MLA Bahçeci Nezihe bilge,Ertan Pelin,YUKSEL SELCUK,NESE NALAN,Dinç Horasan Gönül,Berdeli afig Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. Pamukkale Tıp Dergisi, vol.15, no.3, 2022, ss.539 - 546. 10.31362/patd.1021975
AMA Bahçeci N,Ertan P,YUKSEL S,NESE N,Dinç Horasan G,Berdeli a Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. Pamukkale Tıp Dergisi. 2022; 15(3): 539 - 546. 10.31362/patd.1021975
Vancouver Bahçeci N,Ertan P,YUKSEL S,NESE N,Dinç Horasan G,Berdeli a Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement. Pamukkale Tıp Dergisi. 2022; 15(3): 539 - 546. 10.31362/patd.1021975
IEEE Bahçeci N,Ertan P,YUKSEL S,NESE N,Dinç Horasan G,Berdeli a "Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement." Pamukkale Tıp Dergisi, 15, ss.539 - 546, 2022. 10.31362/patd.1021975
ISNAD Bahçeci, Nezihe bilge vd. "Investigation of neuraminidase 1 gene association in Henoch-Schönlein Purpura (HSP) with renal involvement". Pamukkale Tıp Dergisi 15/3 (2022), 539-546. https://doi.org/10.31362/patd.1021975