Efficacy of enzyme replacement therapy in α-mannosidosis mice: A preclinical animal study

Human Molecular Genetics

Volumn 13, Issue 18, 2004, Pages 1979-1988

  Roces, Diego Prieto ^a   Lüllmann Rauch, Renate ^b   Peng, Jianhe ^a   Balducci, Chiara ^c   Andersson, Claes ^d   Tollersrud, Ole ^e   Fogh, Jens ^d   Orlacchio, Aldo ^c   Beccari, Tommaso ^c   Saftig, Paul ^b   von Figura, Kurt ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF PERUGIA   (Italy)

^d Hemebiotech A/S   (Denmark)

^e UNIVERSITY OF TROMSØ   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE; BIOCHEMICAL MARKER; LYSOSOME ENZYME; MANNOSE 6 PHOSPHATE; OLIGOSACCHARIDE; RECOMBINANT ENZYME;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY WEIGHT; BRAIN; CATTLE; CONTROLLED STUDY; DOSE TIME EFFECT RELATION; DRUG BLOOD LEVEL; DRUG CLEARANCE; DRUG EFFICACY; DRUG HALF LIFE; DRUG SCREENING; DRUG STRUCTURE; ENZYME PHOSPHORYLATION; ENZYME REPLACEMENT; HEART; HUMAN; INTERNALIZATION; KIDNEY; LIVER; LYSOSOME STORAGE DISEASE; MANNOSIDOSIS; MOUSE; NONHUMAN; PRIORITY JOURNAL; SINGLE DRUG DOSE; SPECIES DIFFERENCE; TISSUE TYPES; TREATMENT OUTCOME;

ALPHA-MANNOSIDASE; ALPHA-MANNOSIDOSIS; ANIMALS; BRAIN CHEMISTRY; CATTLE; DISEASE MODELS, ANIMAL; DRUG EVALUATION, PRECLINICAL; HUMANS; INJECTIONS, INTRAVENOUS; KIDNEY; LIVER; METABOLIC CLEARANCE RATE; MICE; MICE, MUTANT STRAINS; OLIGOSACCHARIDES; TISSUE EXTRACTS; VACUOLES;

ANIMALIA; BOVINAE;

EID: 5744254381     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh220     Document Type: Article

References (31)

1. Öckerman, P.A. (1967) A generalized storage disorder resembling Hurler's syndrome. Lancet, 2, 239-241.
2. Hocking, J.D., Jolly, R.D. and Blatt, R.D. (1972) Deficiency of α-mannosidase in Angus cattle. An inherited lysosomal storage disease. Biochem. J., 128, 69-78.
3. Burditt, L.J., Chtai, K., Hirani, S., Nugent, P.G., Winchester, B. and Blakmore, W.F. (1980) Biochemical studies on a case of feline mannosidosis. Biochem. J., 189, 467-473.
4. Hirsch, C., Blom, D. and Ploegh, H.L. (2003) A role for N glycanase in the cytosolic turnover of glycoproteins. EMBO J., 22, 1036-1046.
5. Saint-Pol, A., Cordogno, P. and Moore, S.E.H. (1999) Cytosol to lysosome transport of free polymannose-type oligosaccharides. J Biol. Chem., 274, 13547-13555.
6. Thomas, G.H. (2001) Disorders of glycoprotein degradation: α-mannosidosis, β-mannosidosis, fucosidosis and sialidosis. In Scriver, C., Beaudet, A., Sly, W., Valle, D., Childs, B., Kinzier, K. and Vogelstein, B. (eds), The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill, New York, pp. 3507-3533.
7. Berg, T., Riise, H.M., Hanse, G.M., Malm, D., Tranebjarg, L., Tollersrud, O.K. and Nilssen, O. (1999) Spectrum of mutations in α-mannosidosis. Am. J. Hum. Genet., 64, 77-88.
8. Neufeld, E.F. (2004) Enzyme replacement therapy. In Platt, F.M. and Walkley, S.V. (eds), Lysosomal Disorders of the Brain. Oxford University Press, pp. 327-338.
9. Dobrenis, K. (2004) Cell-mediated delivery systems. In Platt, F.M. and Walkley, S.V. (eds), Lysosomal Disorders of the Brain. Oxford University Press, pp. 339-380.
10. Barton, N.W., Brady, R.O., Dambrosia, J.M., Di Bisceeglie, A.M., Doppelt, S.H., Hill, S.C., Markin, H.J., Murray, G.J., Parker, R.I., Argoff, C.E. et al. (1991) Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med., 324, 1464-1470.
11. Will, A., Cooper, A., Hatton, C., Sardhawalla, I.B., Evans, D.I.K. and Stevens, R.F. (1987) Bone marrow transplantation in the treatment of α-mannosidosis. Arch. Dis. Child., 62, 1044-1049.
12. Wall, D.A., Grange, D.K., Goulding, P., Danies, M., Luisiri, A. and Kotagal, S. (1998) Bone marrow transplantation for the treatment of α-mannosidase. J. Pediatr., 133, 282-285.
13. Malm, D. (2004) Prologue. The doctor as parent. In Platt, F.M. and Walkley, S.V. (eds), Lysosomal Disorders of the Brain. Oxford University Press, pp. XXI-XXVII.
14. Walkely, S.U., Thuall, M.A., Dobrenis, K., Huang, M., March, A., Siegel, D.A. and Wurzelmann, S. (1994) Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc. Natl Acad. Sci. USA, 91, 2970-2974.
15. Stinchi, S., Lüllmann-Rauch, R., Hartmann, D., Coenen, R., Beccari, T., Orlaccio, A., von Figura, K. and Saftig, P. (1999) Targeted disruption of the lysosomal α-mannosidase gene results in mice resembling a mild form of human α-mannosidosis. Hum. Mol. Genet., 8, 1365 -1372.
16. Tollersrud, O.K., Berg, T., Healy, P., Evjen, G., Ramachandran, U. and Nilssen, O. (1997) Purification of bovine lysosomal α-mannosidase, characterization of its gene and determination of two mutations that cause α-mannosidosis. Eur. J. Biochem., 246, 410-419.
17. Kakkis, E.D., Muenzer, J. and Tilller, G.E. (2001) Enzyme replacement therapy in mucopolysaccharidosis. N. Engl. J. Med., 344, 182-188.
18. Ghosh, P., Dahms, N.M. and Kornfeld, S. (2003) Mannose 6-phosphate receptors: new twists in the tale. Nat. Rev., 4, 202-212.
19. Pontow, S.E., Kery, V. and Stahl, P.D. (1992) Mannose receptor. Int. Rev. Cytol., 137B, 221-244.
20. Ashwell, G. and Harford, J. (1982) Carbohydrate-specific receptors of the liver. Ann. Rev. Biochem., 51, 531-554.
21. Sands, M.S., Vogler, C.A., Ohlemiller, K.K, Roberts, M.S., Grubb, J.H., Levy, B. and Sly, W.S. (2001) Biodistribution, kinetics and efficacy of highly phosphorylated and non-phosphorylated β -glucuronidase in the murine model of mucopolysaccharidosis VII. J. Biol. Chem., 276, 41160-43165.
22. Ioannu, Y.A., Zeidner, K.M., Gordon, R.E. and Desnick, R.J. (2001) Fabry disease: preclinical studies demonstrated the effectivness of α-galacosidase replacement in enzyme-deficient mice. Am. J. Hum. Genet., 68, 14-25.
23. Vogler, C., Levy, B., Galvin, N.J., Thorpe, C., Sands, M.S., Barker, J.E., Barty, J., Birkenmeier, E.H. and Sly, W.S. (1999) Enzyme replacement therapy in murine mucopolysaccharidosis type VII: neuronal and glial response to β-glucuronidase requires early initiation of enzyme replacement therapy. Pediatr. Res., 45, 838-844.
24. Yu, W.H., Zhao, K.W., Ryanzantsev, S., Rozengurt, N, and Neufeld, E.F. (2000) Short term enzyme replacement in the murine model of Sanfilippo syndrome type B. Mol. Genet. Metab., 71, 753-780.
25. Miranda, S.R., He, X., Simonara, C.M., Gatt, S, Desnick, R.J. and Schuchman, E.H. (2000) Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological correction of the pathophysiology. FASEB J., 14 1988-1995.
26. Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, N. and Grabowski, G.A. (2001) Enzyme therapy for lysosomal acid lipasi deficiency in the mouse. Hum. Mol. Genet., 10, 1639-1648.
27. Beccari, T., Apolloni, M.G., Constanzi, E., Stinchi, S., Stirling, J.L., della Fazia, M.A., Servillo, G., Viola, M.P. and Orlacchio, A. (1997) Lysosomal alpha-mannosidases of mouse tissues: characteristics of the isoenzymes, and cloning and expression of a full-length cDNA. Biochem. J., 327, 45-49.
28. Artelt, P., Morelle, C., Ausmeier, M., Fitzek, M. and Hauser, H. (1988) Vectors for efficient expression in mammalian fibroblastoid, myeloid and lymphoid cells via transfection or infection. Gene, 68, 213-219.
29. Dittmer, F., Ulbrich, E.J., Hafner, A., Schmahl, W., Meister, T., Pohlmann, R. and von Figura, K. (1999) I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors. Transgenic Res. 7, 473-483.
30. Pohlmann, R., Wendland, M., Boeker, C. and von Figura, K. (1995) The two mannose 6-phosphate receptors transport distinct complements of lysosomal proteins. J. Biol. Chem., 270, 27311-27318.
31. Wessel, D. and Flügge, U.I. (1984) A method for the quantitative recovery of protein in dilute solution in the presence of detergents and lipids. Anal. Biochem., 138, 141-143.