Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model

International Journal of Molecular Medicine

Volumn 24, Issue 3, 2009, Pages 401-407

  Park, Eun Sook ^a   Choi, Jin Ok ^a   Park, Joo Won ^a   Lee, Mi Hee ^a   Park, Hae Young ^a   Jung, Sung Chul ^a  

^a Ewha Womans University School of Medicine   (South Korea)

Author keywords

galactosidase A; Biomarker; Fabry disease; Gene expression; Lipocalin2; Microarray; Mouse; Neuropeptide Y

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 1; ALPHA GALACTOSIDASE; AMYLOID A PROTEIN; CALGRANULIN A; CALGRANULIN B; CD36 ANTIGEN; CHITINASE; CXCL1 CHEMOKINE; G PROTEIN COUPLED RECEPTOR; NEUROPEPTIDE Y; NEUROTENSIN RECEPTOR; NEUTROPHIL GELATINASE ASSOCIATED LIPOCALIN; RIBONUCLEASE A; THIOREDOXIN INTERACTING PROTEIN; THROMBOSPONDIN; THROMBOSPONDIN 2; THROMBOSPONDIN 4; THYROTROPIN RECEPTOR; UNCLASSIFIED DRUG; ACUTE PHASE PROTEIN; CERAMIDE TRIHEXOSIDE; GLOBOTRIAOSYLCERAMIDE; LCN2 PROTEIN, MOUSE; LIPOCALIN; ONCOPROTEIN; THROMBOSPONDIN 1;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE MARKER; ENZYME REPLACEMENT; FABRY DISEASE; GENE EXPRESSION; KIDNEY PARENCHYMA; LIVER; MICROARRAY ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REAL TIME POLYMERASE CHAIN REACTION; UPREGULATION; WESTERN BLOTTING; ANIMAL; BLOOD; DISEASE MODEL; ENZYMOLOGY; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE THERAPY; GENETICS; KIDNEY; METABOLISM; PATHOLOGY; REPRODUCIBILITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ACUTE-PHASE PROTEINS; ALPHA-GALACTOSIDASE; ANIMALS; BLOTTING, WESTERN; DISEASE MODELS, ANIMAL; FABRY DISEASE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE THERAPY; KIDNEY; LIPOCALINS; LIVER; MICE; NEUROPEPTIDE Y; ONCOGENE PROTEINS; REPRODUCIBILITY OF RESULTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THROMBOSPONDIN 1; TRIHEXOSYLCERAMIDES;

EID: 70349580702     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm_00000246     Document Type: Article

References (42)

1. Brady RO: Enzymatic abnormalities in diseases of sphingolipid metabolism. Clin Chem 13: 565-577, 1967.
2. Brady RO and Schiffmann R: Clinical features of and recent advances in therapy for Fabry disease. JAMA 284: 2771-2775, 2000.
3. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO and Schiffmann R: Pediatric Fabry disease. Pediatrics 115: E344-E355, 2005.
4. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M and Desnick RJ: A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68: 711-722, 2001.
5. Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, Quirk JM, Zirzow GC, Borowski M, Loveday K, Anderson T, Gillespie F, Oliver KL, Jeffries NO, Doo E, Liang TJ, Kreps C, Gunter K, Frei K, Crutchfield K, Selden RF and Brady RO: Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 97: 365-370, 2000.
6. Schiffmann R, Ries M, Timmons M, Flaherty JT and Brady RO: Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21: 345-354, 2006.
7. Vedder AC, Linthorst GE, Houge G, Groener JE, Ormel EE, Bouma BJ, Aerts JM, Hirth A and Hollak CE: Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2: e598, 2007.
8. Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO and Kulkarni AB: alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci USA 94: 2540-2544, 1997.
9. Kusiak JW, Quirk JM and Brady RO: Purification and properties of the two major isozymes of alpha-galactosidase from human placenta. J Biol Chem 253: 184-190, 1978.
10. Ullman MD and McCluer RH: Quantitative analysis of plasma neutral glycosphingolipids by high performance liquid chromatography of their perbenzoyl derivatives. J Lipid Res 18: 371-378, 1977.
11. De Kok JB, Roelofs RW, Giesendorf BA, Pennings JL, Waas ET, Feuth T, Swinkels DW and Span PN: Normalization of gene expression measurements in tumor tissues: comparison of 13 endogenous control genes. Lab Invest 85: 154-159, 2005.
12. Livak KJ and Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25: 402-408, 2001.
13. Moore DF, Gelderman MP, Fuhrmann SR, Schiffmann R, Brady RO and Goldin E: Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model. Acta Paediatr (Suppl) 95: 69-71, 2006.
14. Moore DF, Gelderman MP, Ferreira PA, Fuhrmann SR, Yi H, Elkahloun A, Lix LM, Brady RO, Schiffmann R and Goldin E: Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach. Proc Natl Acad Sci USA 104: 8065-8070, 2007.
15. Malle E and De Beer FC: Human serum amyloid A (SAA) protein: a prominent acute-phase reactant for clinical practice. Eur J Clin Invest 26: 427-435, 1996.
16. Husebekk A, Skogen B, Husby G and Marhaug G: Transformation of amyloid precursor SAA to protein AA and incorporation in amyloid fibrils in vivo. Scand J Immunol 21: 283-287, 1985.
17. Badolato R, Johnston JA, Wang JM, McVicar D, Xu LL, Oppenheim JJ and Kelvin DL: Serum amyloid A induces calcium mobilization and chemotaxis of human monocytes by activating a pertussis toxin-sensitive signaling pathway. J Immunol 155: 4004-4010, 1995.
18. Artl A, Marsche G, Lestavel S, Sattler W and Malle E: Role of serum amyloid A during metabolism of acute-phase HDL by macrophages. Arterioscler Thromb Vasc Biol 20: 763-772, 2000.
19. Baranova IN, Vishnyakova TG, Bocharov AV, Kurlander R, Chen Z, Kimelman ML, Remaley AT, Csako G, Thomas F, Eggerman TL and Patterson AP: Serum amyloid A binding to CLA-1 (CD36 and LIMPII analogous-1) mediates serum amyloid A protein-induced activation of ERK1/2 and p38 mitogen-activated protein kinases. J Biol Chem 280: 8031-8040, 2005.
20. Rustandi RR, Baldisseri DM, Drohat AC and Weber DJ: Structural changes in the C-terminus of Ca2+-bound rat S100B (beta beta) upon binding to a peptide derived from the C-terminal regulatory domain of p53. Protein Sci 8: 1743-1751, 1999.
21. Heizmann CW: The multifunctional S100 protein family. Methods Mol Biol 172: 69-80, 2002.
22. Heizmann CW, Fritz G and Schafer BW: S100 proteins: structure, functions and pathology. Front Biosci 7: D1356-D1368, 2002.
23. Hraba-Renevey S, Turler H, Kress M, Salomon C and Weil R: SV40-induced expression of mouse gene 24p3 involves a post-transcriptional mechanism. Oncogene 4: 601-608, 1989.
24. Kjeldsen L, Johnsen AH, Sengelov H and Borregaard N: Isolation and primary structure of NGAL, a novel protein associated with human neutrophil gelatinase. J Biol Chem 268: 10425-10432, 1993.
25. Liu Q and Nilsen-Hamilton M: Identification of a new acute phase protein. J Biol Chem 270: 22565-22570, 1995.
26. Jayaraman A, Roberts KA, Yoon J, Yarmush DM, Duan X, Lee K and Yarmush ML: Identification of neutrophil gelatinase-associated lipocalin (NGAL) as a discriminatory marker of the hepatocyte-secreted protein response to IL-1beta: a proteomic analysis. Biotechnol Bioeng 91: 502-515, 2005.
27. Mishra J, Mori K, Ma Q, Kelly C, Barasch J and Devarajan P: Neutrophil gelatinase-associated lipocalin: a novel early urinary biomarker for cisplatin nephrotoxicity. Am J Nephrol 24: 307-315, 2004.
28. Mishra J, Dent C, Tarabishi R, Mitsnefes MM, Ma Q, Kelly C, Ruff SM, Zahedi K, Shao M, Bean J, Mori K, Barasch J and Devarajan P: Neutrophil gelatinase-associated lipocalin (NGAL) as a biomarker for acute renal injury after cardiac surgery. Lancet 365: 1231-1238, 2005.
29. Venkatesha S, Hanai J, Seth P, Karumanchi SA and Sukhatme VP: Lipocalin 2 antagonizes the proangiogenic action of ras in transformed cells. Mol Cancer Res 4: 821-829, 2006.
30. Heare T, Alp NJ, Priestman DA, Kulkarni AB, Qasba P, Butters TD, Dwek RA, Clarke K, Channon KM and Platt FM: Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. J Inherit Metab Dis 30: 79-87, 2007.
31. Kyriakides TR, Leach KJ, Hoffman AS, Ratner BD and Bornstein P: Mice that lack the angiogenesis inhibitor, thrombospondin 2, mount an altered foreign body reaction characterized by increased vascularity. Proc Natl Acad Sci USA 96: 4449-4454, 1999.
32. Tolsma SS, Volpert OV, Good DJ, Frazier WA, Polverini PJ and Bouck N: Peptides derived from two separate domains of the matrix protein thrombospondin-1 have anti-angiogenic activity. J Cell Biol 122: 497-511, 1993.
33. Dawson DW, Pearce SF, Zhong R, Silverstein RL, Frazier WA and Bouck NP: CD36 mediates the in vitro inhibitory effects of thrombospondin-1 on endothelial cells. J Cell Biol 138: 707-717, 1997.
34. Guo N, Krutzsch HC, Inman JK and Roberts DD: Thrombospondin 1 and type I repeat peptides of thrombospondin 1 specifically induce apoptosis of endothelial cells. Cancer Res 57: 1735-1742, 1997.
35. Jimenez B, Volpert OV, Crawford SE, Febbraio M, Silverstein RL and Bouck N: Signals leading to apoptosis-dependent inhibition of neovascularization by thrombospondin-1. Nat Med 6: 41-48, 2000.
36. Nor JE, Mitra RS, Sutorik MM, Mooney DJ, Castle VP and Polverini PJ: Thrombospondin-1 induces endothelial cell apoptosis and inhibits angiogenesis by activating the caspase death pathway. J Vasc Res 37: 209-218, 2000.
37. Thakar CV, Zahedi K, Revelo MP, Wang Z, Burnham CE, Barone S, Bevans S, Lentsch AB, Rabb H and Soleimani M: Identification of thrombospondin 1 (TSP-1) as a novel mediator of cell injury in kidney ischemia. J Clin Invest 115: 3451-3459, 2005.
38. Wettstein JG, Earley B and Junien JL: Central nervous system pharmacology of neuropeptide Y. Pharmacol Ther 65: 397-414, 1995.
39. Jacques D and Abdel-Samad D: Neuropeptide Y (NPY) and NPY receptors in the cardiovascular system: implication in the regulation of intracellular calcium. Can J Physiol Pharmacol 85: 43-53, 2007.
40. Magni P: Hormonal control of the neuropeptide Y system. Curr Protein Pept Sci 4: 45-57, 2003.
41. Zoccali C, Mallamaci F, Tripepi G, Benedetto FA, Parlongo S, Cutrupi S, Bonanno G, Rapisarda F, Fatuzzo P, Seminara G, Cataliotti A and Malatino LS: Neuropeptide Y, left ventricular mass and function in patients with end stage renal disease. J Hypertens 21: 1355-1362, 2003.
42. Kokot F, Adamczak M, Wiecek A, Spiechowicz U and Mesjasz J: Plasma immunoreactive leptin and neuropeptide Y levels in kidney transplant patients. Am J Nephrol 19: 28-33, 1999.