Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy

Molecular Therapy

Volumn 17, Issue 4, 2009, Pages 600-606

  Matzner, Ulrich ^a   Lüllmann Rauch, Renate ^b   Stroobants, Stijn ^c   Andersson, Claes ^d   Weigelt, Cecilia ^d   Eistrup, Carl ^e   Fogh, Jens ^e   D'Hooge, Rudi ^c   Gieselmann, Volkmar ^a  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d Zymenex A/S   (Sweden)

^e Zymenex AS   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

RECOMBINANT CEREBROSIDE SULFATASE; RECOMBINANT ENZYME; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATAXIA; BRAIN STEM; CENTRAL NERVOUS SYSTEM FUNCTION; CONTROLLED STUDY; DOSE RESPONSE; DRUG DOSE COMPARISON; DRUG EFFICACY; DRUG TOLERABILITY; ENZYME REPLACEMENT; HIPPOCAMPAL FIMBRIA; HISTOPATHOLOGY; IMMUNOLOGICAL TOLERANCE; METACHROMATIC LEUKODYSTROPHY; MOUSE; NONHUMAN;

ANIMALS; ATAXIA; BEHAVIOR, ANIMAL; CENTRAL NERVOUS SYSTEM; CEREBROSIDE-SULFATASE; DISEASE MODELS, ANIMAL; GAIT; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MICE; MICE, KNOCKOUT; RECOMBINANT PROTEINS;

MUS;

EID: 63949087844     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2008.305     Document Type: Article

References (33)

1. Kornfeld, S and Mellman, I (1989). The biogenesis of lysosomes. Annu Rev Cell Biol 5: 483-525.
2. Brady, RO and Schiffmann, R (2004). Enzyme-replacement therapy for metabolic storage disorders. Lancet Neurol 3: 752-756.
3. Matzner, U, Matthes, F, Weigelt, C, Andersson, C, Eistrup, C, Fogh, J et al. (2008). Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease. J Mol Med 86: 433-442.
4. Wang, J, Lozier, J, Johnson, G, Kirshner, S, Verthelyi, D, Pariser, A et al. (2008). Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat Biotechnol 26: 901-908.
5. Walkley, SU (2003). Neurobiology and cellular pathogenesis of glycolipid storage diseases. Philos Trans R Soc Lond B Biol Sci 358: 893-904.
6. Hollak, CE, Vedder, AC, Linthorst, GE and Aerts, JM (2007). Novel therapeutic targets for the treatment of Fabry disease. Expert Opin Ther Targets 11: 821-833.
7. Raben, N, Danon, M, Gilbert, AL, Dwivedi, S, Collins, B et al. (2003). Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80: 159-169.
8. Prows, CA, Sanchez, N, Daugherty, C and Grabowski, GA (1997). Gaucher disease: Enzyme therapy in the acute neuronopathic variant. Am J Med Genet 71: 16-21.
9. Dunder, U, Kaartinen, V, Valtonen, P, Väänänen, E, Kosma, VM, Heisterkamp, N et al. (2000). Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB J 14: 361-367.
10. Roces, DP, Lüllmann-Rauch, R, Peng, J, Balducci, C, Andersson, C, Tollersrud, O et al. (2004). Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: A preclinical animal study. Hum Mol Genet 13: 1979-1988.
11. Blanz, J, Stroobants, S, Lüllmann-Rauch, R, Morelle, W, Lüdemann, M, D'Hooge, R et al. (2008). Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. Hum Mol Genet 17: 3437-3445.
12. Vogler, C, Levy, B, Grubb, JH, Galvin, N, Tan, Y, Kakkis, E et al. (2005). Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 102: 14777-14782.
13. Matzner, U, Herbst, E, Hedayati, KK, Lüllmann-Rauch, R, Wessig, C, Schröder, S et al. (2005). Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 14: 1139-1152.
14. von Figura, K, Gieselmann, V and 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, pp. 3695-3724.
15. Matzner, U, Matthes, F, Herbst, E, Lüllmann-Rauch, R, Callaerts-Vegh, Z, D'Hooge, R et al. (2007). Induction of tolerance to human arylsulfatase a in a mouse model of metachromatic leukodystrophy. Mol Med 13: 471-479.
16. Lüllmann-Rauch, R, Matzner, U, Franken, S, Hartmann, D and 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: 161-169.
17. Wittke, D, Hartmann, D, Gieselmann, V and Lüllmann-Rauch, R (2004). Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: Cellular alterations and topographic distribution. Acta Neuropathol 108: 261-271.
18. D'Hooge, R, Coenen, R, Gieselmann, V, Lüllmann-Rauch, R and De Deyn, PP (1999). Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice. Brain Res 847: 352-356.
19. Coenen, R, Gieselmann, V and Lüllmann-Rauch, R (2001). Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse. Acta Neuropathol 101: 491-498.
20. Hess, B, Saftig, P, Hartmann, D, Coenen, R, Lüllmann-Rauch, R, Goebel, HH et al. (1996). Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci USA 93: 14821-14826.
21. D'Hooge, R, Hartmann, D, Manil, J, Colin, F, Gieselmann, V and De Deyn, PP (1999). Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice. Neurosci Lett 273 93-96.
22. D'Hooge, R, Van Dam, D, Franck, F, Gieselmann, V and De Deyn, PP (2001). Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. Brain Res 907: 35-43.
23. Raben, N, Fukuda, T, Gilbert, AL, de Jong, D, Thurberg, BL, Mattaliano, RJ et al. (2005). Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 11: 48-56.
24. Urayama, A, Grubb, JH, Sly, WS and Banks, WA (2004). Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier. Proc Natl Acad Sci USA 101: 12658-12663.
25. Urayama, A, Grubb, JH, Banks, WA and Sly, WS (2007). Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor. Proc Natl Acad Sci USA 104: 12873-12878.
26. Stroobants, S, Leroy, T, Eckhardt, M, Aerts, JM, Berckmans, D and D'Hooge, R (2008). Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy. Behav Brain Res 189: 306-316.
27. Sevin, C, Benraiss, A, Van Dam, D, Bonnin, D, Nagels, G, Verot, L et al. (2006). Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. Hum Mol Genet 15: 53-64.
28. Sevin, C, Verot, L, Benraiss, A, Van Dam, D, Bonnin, D, Nagels, G et al. (2007). Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. Gene Ther 14: 405-414.
29. Matzner, U, Harzer, K, Learish, RD, Barranger, JA and 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: 1250-1257.
30. Matzner, U, Hartmann, D, Lüllmann-Rauch, R, Coenen, R, Rothert, F, Månsson, JE 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.
31. Biffi, A, De Palma, M, Quattrini, A, Del Carro, U, Amadio, S, Visigalli, I et al. (2004). Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J Clin Invest 113: 1118-1129.
32. Biffi, A, Capotondo, A, Fasano, S, del Carro, U, Marchesini, S, Azuma, H et al. (2006). Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice. J Clin Invest 116: 3070-3082.
33. Ramakrishnan, H, Hedayati, KK, Lüllmann-Rauch, R, Wessig, C, Fewou, SN, Maier, H et al. (2007). Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. J Neurosci 27: 9482-9490.