Potential biomarkers of osteonecrosis in Gaucher disease

Blood Cells, Molecules, and Diseases

Volumn 46, Issue 1, 2011, Pages 27-33

  Pavlova, Elena V ^a   Deegan, Patrick B ^a,b   Tindall, Jane ^b   McFarlane, Ian ^c   Mehta, Atul ^d   Hughes, Derralyn ^d   Wraith, J Edmond ^e   Cox, Timothy M ^a,b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c NIHR Cambridge Biomedical Research Centre   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

^e ST MARY S HOSPITAL   (United Kingdom)

Author keywords

Biomarkers; Enzyme replacement therapy; Gaucher disease; Multiplex flow cytometric bead array assay; Osteonecrosis (avascular necrosis)

Indexed keywords

BIOLOGICAL MARKER; CCL18 CHEMOKINE; CHITOTRIOSIDASE; IMIGLUCERASE; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 8; MACROPHAGE INFLAMMATORY PROTEIN 1ALPHA; MACROPHAGE INFLAMMATORY PROTEIN 1BETA; MONOCYTE CHEMOTACTIC PROTEIN 1; RANTES; UNCLASSIFIED DRUG; VASCULOTROPIN;

ADULT; AGED; ANIMAL TISSUE; ARTICLE; BONE NECROSIS; CONTROLLED STUDY; DISEASE COURSE; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; GAUCHER DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONHUMAN; PREDICTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; TREATMENT DURATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CHEMOKINES, CC; CYTOKINES; ENZYME REPLACEMENT THERAPY; FEMALE; GAUCHER DISEASE; HEXOSAMINIDASES; HUMANS; MALE; MIDDLE AGED; OSTEONECROSIS; UP-REGULATION; YOUNG ADULT;

EID: 78650852552     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.10.010     Document Type: Article

References (44)

1. Charrow J., Dulisse B., Grabowski G.A., Weinreb N.J. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin. Genet. 2007, 71(3):205-211.
2. Weinreb N.J., Charrow J., Andersson H.C., Kaplan P., Kolodny E.H., Mistry P., et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5years of treatment: a report from the Gaucher Registry. Am. J. Med. 2002, 113(2):112-119.
3. Wenstrup R.J., Roca-Espiau M., Weinreb N.J., Bembi B. Skeletal aspects of Gaucher disease: a review. Br. J. Radiol. 2002, 75(Suppl 1):A2-A12.
4. Cox T.M. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J. Inherit. Metab. Dis. 2001, 24(Suppl 2):106-121. discussion 87-8.
5. Moran M.T., Schofield J.P., Hayman A.R., Shi G.P., Young E., Cox T.M. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 2000, 96(5):1969-1978.
6. Boven L.A., van Meurs M., Boot R.G., Mehta A., Boon L., Aerts J.M., Laman J.D. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am. J. Clin. Pathol. 2004, 122(3):359-369.
7. Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994, 93(3):1288-1292.
8. Boot R.G., Verhoek M., de Fost M., Hollak C.E., Maas M., Bleijlevens B., et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004, 103(1):33-39.
9. Deegan P.B., Moran M.T., McFarlane I., Schofield J.P., Boot R.G., Aerts J.M., Cox T.M. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol. Dis. 2005, 35(2):259-267.
10. Michelakakis H., Dimitriou E., Van Weely S., Boot R.G., Mavridou I., Verhoek M., Aerts J.M. Plasma tumor necrosis factor-a (THF-a) levels in Gaucher disease. Biochim. Biophys. Acta 1996, 1317(3):219-222.
11. Allen M.J., Myer B.J., Khokher A.M., Rushton N., Cox T.M. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased of interleukin-6 and interleukin-10. QJM 1997, 90(1):19-25.
12. Hollak C.E., Evers L., Aerts J.M., van Oers M.H. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. Blood Cells Mol. Dis. 1997, 23(2):201-212.
13. Stirnemann J., Belmatoug N., Vincent C., Fain O., Fantin B., Mentré F. Bone events and evolution of biologic markers in Gaucher disease before and during treatment. Arthritis Res. Ther. 2010, 2(4):R156.
14. Pastores G.M., Weinreb N.J., Aerts H., Andria G., Cox T.M., Giralt M., Grabowski G.A., Mistry P.K., Tylki-Szymanska A. Therapeutic goals in the treatment of Gaucher disease. Semin. Hematol. 2004, 41(4 Suppl 5):4-14.
15. Weinreb N.J., Aggio M.C., Andersson H.C., Andria G., Charrow J., Clarke J.T., Erikson A., International Collaborative Gaucher Group (ICGG), et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin. Hematol. 2004, 41(4 Suppl 5):15-22.
16. Andersson H.C., Charrow J., Kaplan P., Mistry P., Pastores G.M., Prakash-Cheng A., Rosenbloom B.E., International Collaborative Gaucher Group U.S.Regional Coordinators, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet. Med. 2005, 7(2):105-110.
17. P.B. Deegan, E.V. Pavlova, J. Tindall, P. Stein, P. Bearcroft, A. Mehta, D. Hughes, et al. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 90 (1) (2011), in press.
18. Carson R.T., Vignali D.A. Simultaneous quantitation of 15 cytokines using a multiplexed flow cytometric assay. J. Immunol. Methods 1999, 227:41-52.
19. Kellar K.L., Kalwar R.R., Dubois K.A., Crouse D., Chafin W.D., Kane B.E. Multiplexed fluorescent bead-based immunoassays for quantitation of human cytokines in serum and culture supernatants. Cytometry 2001, 45:27-36.
20. Nix B. Calibration curve-fitting. The Immunoassay Handbook 2001, 198-210. Nature Publishing Group, New York. D. Wild (Ed.).
21. de Jager W., te Velthuis H., Prakken B.J., Kuis W., Rijkers G.T. Simultaneous detection of 15 human cytokines in a single sample of stimulated peripheral blood mononuclear cells. Clin. Diagn. Lab. Immunol. 2003, 10(1):133-139.
22. de Jager W., Prakken B.J., Bijlsma J.W., Kuis W., Rijkers G.T. Improved multiplex immunoassay performance in human plasma and synovial fluid following removal of interfering heterophilic antibodies. J. Immunol. Methods 2005, 300(1-2):124-135.
23. Boot R.G., Renkema G.H., Verhoek M., Strijland A., Bliek J., de Meulemeester T.M., Mannens M.M., et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J. Biol. Chem. 1998, 273:25680-25685.
24. Giraldo P., Cenarro A., Alfonso P., Pérez-Calvo J.I., Rubio-Félix D., Giralt M., Pocoví M. Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers). Haematologica 2001, 86:977-984.
25. Schoonhoven A., Rudensky B., Elstein D., Zimran A., Hollak C.E., Groener J.E., Aerts J.M. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin. Chim. Acta 2007, 381(2):136-139.
26. Mantovani A., Sozzani S., Locati M., Allavena P., Sica A. Macrophage polarization: tumor-associated macrophages as a paradigm for polarized M2 mononuclear phagocytes. Trends Immunol. 2002, 23(11):549-555.
27. Gordon S. Alternative activation of macrophages. Nat. Rev. Immunol. 2003, 3(1):23-35.
28. Hieshima K., Imai T., Baba M., Shoudai K., Ishizuka K., Nakagawa T., Tsuruta J., et al. A novel human CC chemokine PARC that is most homologous to macrophage-inflammatory protein-1 alpha/LD78 alpha and chemotactic for T lymphocytes, but not for monocytes. J. Immunol. 1997, 159(3):1140-1149.
29. van Breemen M.J., de Fost M., Voerman J.S., Laman J.D., Boot R.G., Maas M., et al. Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. Biochim. Biophys. Acta 2007, 1772(7):788-796.
30. Kodelja V., Müller C., Politz O., Hakij N., Orfanos C.E., Goerdt S. Alternative macrophage activation associated CC-chemokine-1, a novel structural homologue of macrophage inflammatory protein-1 alpha with a Th2-associated expression pattern. J. Immunol. 1998, 160(3):1411-1418.
31. Lichtenstein M., Zimran A., Horowitz M. Cytokine mRNA in Gaucher disease. Blood Cells Mol. Dis. 1997, 23(3):395-401.
32. Campeau P.M., Rafei M., Boivin M.N., Sun Y., Grabowski G.A., Galipeau J. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood 2009, 114(15):3181-3190.
33. Yoshimura T., Matsushima K., Tanaka S., Robinson E., Appella E., Oppenheim J., Leonard E. Purification of a human monocyte-derived neutrophil chemotactic factor that has peptide sequence similarity to other host defense cytokines. Proc. Nat. Acad. Sci. 1987, 84:9233-9237.
34. Modi W.S., Dean M., Seuanez H.N., Mukaida N., Matsushima K., O'Brien S.J. Monocyte-derived neutrophil chemotactic factor (MDNCF/IL-8) resides in a gene cluster along with several other members of the platelet factor 4 gene superfamily. Hum. Genet. 1990, 84(2):185-187.
35. Rot A., Hub E., Middleton J., Pons F., Rabeck C., Thierer K., Wintle J., et al. Some aspects of IL-8 pathophysiology. III: Chemokine interaction with endothelial cells. J. Leukoc. Biol. 1996, 59(1):39-44.
36. Koch A.E., Polverini P.J., Kunkel S.L., Harlow L.A., DiPietro L.A., Elner V.M., et al. Interleukin-8 as a macrophage-derived mediator of angiogenesis. Science 1992, 11(5089):1798-1801.
37. Boisvert W.A., Curtiss L.K., Terkeltaub R.A. Interleukin-8 and its receptor CXCR2 in atherosclerosis. Immunol. Res. 2000, 21(2-3):129-137.
38. Apostolakis S., Vogiatzi K., Amanatidou V., Spandidos D.A. Interleukin 8 and cardiovascular disease. Cardiovasc. Res. 2009, 84(3):353-360.
39. Vogiatzi K., Apostolakis S., Voudris V., Thomopoulou S., Kochiadakis G.E., Spandidos D.A. Interleukin 8 and susceptibility to coronary artery disease: a population genetics perspective. J. Clin. Immunol. 2008, 28(4):329-335.
40. Kostulas N., Kivisäkk P., Huang Y., Matusevicius D., Kostulas V., Link H. Ischemic stroke is associated with a systemic increase of blood mononuclear cells expressing interleukin-8 mRNA. Stroke 1998, 29(2):462-466.
41. Rothe L., Collin-Osdoby P., Chen Y., Sunyer T., Chaudhary L., Tsay A., et al. Human osteoclasts and osteoclast-like cells synthesize and release high basal and inflammatory stimulated levels of the potent chemokine interleukin-8. Endocrinology 1998, 139(10):4353-4363.
42. Bendre M.S., Montague D.C., Peery T., Akel N.S., Gaddy D., Suva L.S. Interleukin-8 stimulation of osteoclastogenesis and bone resorption is a mechanism for the increased osteolysis of metastatic bone disease. Bone 2003, 33(1):28-37.
43. Luster A.D. Chemokines-chemotactic cytokines that mediate inflammation. N Engl J. Med. 1998, 338(7):436-445.
44. Baggiolini M. Chemokines and leukocyte traffic. Nature 1998, 392(6676):565-568.