Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy

Molecular Medicine

Volumn 13, Issue 9-10, 2007, Pages 471-479

  Matzner, Ulrich ^a   Matthes, Frank ^a   Herbst, Eva ^b   Lüllmann Rauch, Renate ^b   Callaerts Vegh, Zsuzsanna ^c   D'Hooge, Rudi ^c   Weigelt, Cecilia ^d,e   Eistrup, Carl ^d,e   Fogh, Jens ^d,e   Gieselmann, Volkmar ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d Zymenex AS   (Denmark)

^e NONE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; GLYCOGEN;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME REPLACEMENT; GLYCOGEN METABOLISM; IMMUNOGENICITY; IMMUNOLOGICAL TOLERANCE; KNOCKOUT MOUSE; LIVER CELL; LYSOSOME; METACHROMATIC LEUKODYSTROPHY; MOUSE; MOUSE STRAIN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TARGETING; TRANSGENIC MOUSE;

AMINO ACID SUBSTITUTION; ANIMALS; BINDING SITES; CELLS, CULTURED; CEREBROSIDE-SULFATASE; CRICETINAE; DISEASE MODELS, ANIMAL; DRUG ADMINISTRATION SCHEDULE; ENZYME-LINKED IMMUNOSORBENT ASSAY; GENE EXPRESSION; HUMANS; IMMUNE TOLERANCE; INJECTIONS, INTRAVENOUS; KIDNEY; LEUKODYSTROPHY, METACHROMATIC; LIVER; MICE; MICE, TRANSGENIC; RECOMBINANT PROTEINS; SERINE; TRANSGENES;

EID: 35348843507     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/2007-00063.Matzner     Document Type: Article

References (31)

1. von Figura K, Gieselmann V, Jaeken J. (2001) Metachromatic leukodystrophy. In Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. (eds.). The Metabolic and Molecular Bases of Inherited Disease. Mc Graw-Hill. New York, USA. pp. 3695-724.
2. Hess B et al. (1996) Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc. Natl. Acad. Sci. U S A. 93:14821-6.
3. Sevin C, Aubourg P, Cartier N. (2007) Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J. Inherit. Metab. Dis. 30:175-83.
4. Polten A, Fluharty AL, Fluharty CB, Kappler J von Figura K, Gieselmann V. (1991) Molecular basis of different forms of metachromatic leukodystrophy. N. Engl. J. Med. 324:18-22.
5. Kyewski B, Klein L. (2006) A central role for central tolerance. Annu. Rev. Immunol. 24:571-606.
6. Matzner U et al. (2005) Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum. Mol. Genet. 14:1139-52.
7. Brooks DA. (1999) Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models. Mol. Genet. Metab. 68: 268-75.
8. Brooks DA, Kakavanos R, Hopwood JJ. (2003) Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder. Trends Mol. Med. 9:450-3.
9. Sly WS et al. (2001) Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice. Proc. Natl. Acad. Sci. U. S. A. 98:2205-10.
10. Tomatsu S et al. (2003) Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase. Hum. Mol. Genet. 12: 961-73.
11. Tomatsu S et al. (2005) Development of MPS IVA mouse (Galnstm(hC79S. mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum. Mol. Genet. 14: 3321-35.
12. Matzner U, Habetha M, Gieselmann V (2000) Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. Gene Ther. 7:805-12.
13. Baum H, Dodgson KS, Spencer B. (1959) The assay of arylsulphatases A and B in human urine. Clin. Chim. Acta. 4: 453-5.
14. Matzner U, Harzer K, Learish RD, Barranger JA, Gieselmann V (2000) Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector. Gene Ther. 7:1250-7.
15. Stein C et al. (1989) Cloning and expression of human arylsulfatase A. J. Biol. Chem. 264:1252-9.
16. Poeppel P, Habetha M, Marcao A, Bussow H, Berna L, Gieselmann V. (2005) Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. FEBS J. 272:1179-88.
17. Klein D, Bussow H, Fewou SN, Gieselmann V (2005) Exocytosis of storage material in a lysosomal disorder. Biochem. Biophys. Res. Commun. 327:663-7.
18. D'Hooge R, Van Dam D, Franck F, Gieselmann V, De Deyn PP. (2001) Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. Brain Res. 907:35-43.
19. Matzner U et al. (2002) Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. Gene Ther. 9:53-63.
20. Dierks T, Schmidt B, von Figura K. (1997) Conversion of cysteine to formylglycine: A protein modification in the endoplasmic reticulum. Proc. Natl Acad. Sci. U.S.A. 94:11963-8.
21. Wittke D, Hartmann D, Gieselmann V, Lullmann-Rauch R. (2004) Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. Acta Neuropathol. (Berl). 108:261-71.
22. Lullmann-Rauch R, Matzner U, Franken S, Hartmann D, Gieselmann V. (2001) Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase. Histochem. Cell Biol. 116:161-9.
23. Matzner U, Gieselmann V. (2005) Gene therapy of metachromatic leukodystrophy. Expert Opin. Biol. Ther. 5:55-65.
24. Hirschhorn R, Reusser AJ. (2000) Glycogen storage disease type II. In Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds.). The Metabolic and Molecular Bases of Inherited Disease. Mc Graw-Hill. New York, USA. pp. 3389-420.
25. Raben N et al. (2003) Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice. Transgenic Res. 12:171-8.
26. Kreysing J et al. (1994) Structure of the mouse arylsulfatase A gene and cDNA. Genomics. 19:249-56.
27. Lee WC et al. (2005) Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. FASEB J. 19:1549-51.
28. Roces DP et al. (2004) Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. Hum. Mol. Genet. 13:1979-88.
29. Dunder U et al. (2000) Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB J. 14:361-7.
30. Vogler C et al. (2005) Overcoming the bloodbrain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. U. S. A. 102:14777-82.
31. Urayama A, Grubb JH, Sly WS, Banks WA. (2004) Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier. Proc. Natl. Acad. Sci. U. S. A. 101:12658-63.