Therapeutic potential of intracerebroventricular replacement of modified human Β-hexosaminidase B for GM2 gangliosidosis

Molecular Therapy

Volumn 19, Issue 6, 2011, Pages 1017-1024

  Matsuoka, Kazuhiko ^a,b   Tamura, Tomomi ^a   Tsuji, Daisuke ^a,b   Dohzono, Yukie ^a   Kitakaze, Keisuke ^a   Ohno, Kazuki ^c   Saito, Seiji ^d,f   Sakuraba, Hitoshi ^b,e   Itoh, Kohji ^a,b  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b NATIONAL INSTITUTE OF BIOMEDICAL INNOVATION   (Japan)

^c NPO for the Promotion of Research on Intellectual Property Tokyo   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^f ASTELLAS PHARMA INC   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE B; GANGLIOSIDE GM2; SOMATOMEDIN B RECEPTOR;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHO CELL; CONTROLLED STUDY; DRUG EFFECT; DRUG EFFICACY; ENZYME REPLACEMENT; FIBROBLAST CULTURE; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; IN VITRO STUDY; MOUSE; NONHUMAN; SANDHOFF DISEASE; TAY SACHS DISEASE; THERMOSTABILITY; WILD TYPE;

CRICETULUS GRISEUS; MUS;

EID: 79957890647     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2011.27     Document Type: Article

References (36)

1. Mahuran, DJ (1999). Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta 1455: 105-138. (Pubitemid 29435983)
2. Gravel, A, Kaback, M, Proia, RL, Sandhoff, K and Suzuki K (2001). The GM2 gangliosidosis. In: Scriver, CR, Beaudet, AL, Sly, WS, Valle, D (eds). The Metabolic and Molecular Bases of Inherited Diseases, 8th edn., vol. III. McGraw-Hill: New York. pp. 3827-3877.
3. Jeyakumar, M, Norfus, F, Tifft, CJ, Cortina-Borja, M, Butters, TD, Proia, RL et al. (2001). Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood 97: 327-329. (Pubitemid 32061278)
4. Shapiro, BE, Pastores, GM, Gianutsos, J, Luzy, C and Kolodny, EH (2009). Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med 11: 425-433.
5. Cachón-González, MB, Wang, SZ, Lynch, A, Ziegler, R, Cheng, SH and Cox, TM (2006). Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci USA 103: 10373-10378. (Pubitemid 44051174)
6. Lee, J P, Jeyakumar, M, Gonzalez, R, Takahashi, H, Lee, PJ, Baek, RC et al. (2007). Stem cells act through multiple mechanisms to beneft mice with neurodegenerative metabolic disease. Nat Med 13: 439-447. (Pubitemid 46559825)
7. Barton, NW, Brady, RO, Dambrosia, JM, Di Bisceglie, AM, Doppelt, SH, Hill, SC et al. (1991). Replacement therapy for inherited enzyme defciency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464-1470.
8. Grabowski, GA, Kacena, K, Cole, JA, Hollak, CE, Zhang, L, Yee, J et al. (2009). Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 11: 92-100.
9. Eng, CM, Guffon, N, Wilcox, WR, Germain, DP, Lee, P, Waldek, S et al. (2001). Safety and effcacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345: 9-16. (Pubitemid 32634266)
10. Amalftano, A, Bengur, AR, Morse, RP, Majure, JM, Case, LE, Veerling, DL et al. (2001). Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 3: 132-138.
11. Kishnani, PS, Corzo, D, Nicolino, M, Byrne, B, Mandel, H, Hwu, WL et al. (2007). Recombinant human acid [alpha]-glucosidase: major clinical benefts in infantile-onset Pompe disease. Neurology 68: 99-109. (Pubitemid 46071892)
12. Clarke, LA, Wraith, JE, Beck, M, Kolodny, EH, Pastores, GM, Muenzer, J et al. (2009). Long-term effcacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 123: 229-240.
13. Wraith, JE, Scarpa, M, Beck, M, Bodamer, OA, De Meirleir, L, Guffon, N et al. (2008). Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 167: 267-277.
14. Chang, M, Cooper, JD, Sleat, DE, Cheng, SH, Dodge, JC, Passini, MA et al. (2008). Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 16: 649-656. (Pubitemid 351426165)
15. Dodge, JC, Clarke, J, Treleaven, CM, Taksir, TV, Griffths, DA, Yang, W et al. (2009). Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Exp Neurol 215: 349-357.
16. Kakkis, E, McEntee, M, Vogler, C, Le, S, Levy, B, Belichenko, P et al. (2004). Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 83: 163-174. (Pubitemid 39328075)
17. 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.
18. Sharma, R, Deng, H, Leung, A and Mahuran, D (2001). Identifcation of the 6-sulfate binding site unique to alpha-subunit-containing isozymes of human beta-hexosaminidase. Biochemistry 40: 5440-5446. (Pubitemid 32458245)
19. Sharma, R, Bukovac, S, Callahan, J and Mahuran, D (2003). A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside. Biochim Biophys Acta 1637: 113-118. (Pubitemid 36071604)
20. Zarghooni, M, Bukovac, S, Tropak, M, Callahan, J and Mahuran, D (2004). An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A. Biochem Biophys Res Commun 324: 1048-1052. (Pubitemid 39361614)
21. Weitz, G and Proia, RL (1992). Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis. J Biol Chem 267: 10039-10044.
22. Akeboshi, H, Kasahara, Y, Tsuji, D, Itoh, K, Sakuraba, H, Chiba, Y et al. (2009). Production of human beta-hexosaminidase A with highly phosphorylated N-glycans by the overexpression of the Ogataea minuta MNN4 gene. Glycobiology 19: 1002-1009.
23. Linthorst, GE, Hollak, CE, Donker-Koopman, WE, Strijland, A and Aerts, JM (2004). Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66: 1589-1595. (Pubitemid 39298394)
24. Dickson, P, Peinovich, M, McEntee, M, Lester, T, Le, S, Krieger, A et al. (2008). Immune tolerance improves the effcacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest 118: 2868-2876.
25. McDonald, IK and Thornton, JM (1994). Satisfying hydrogen bonding potential in proteins. J Mol Biol 238: 777-793. (Pubitemid 24168633)
26. Lee, B and Richards, FM (1971). The interpretation of protein structures: estimation of static accessibility. J Mol Biol 55: 379-400.
27. Mark, BL, Mahuran, DJ, Cherney, MM, Zhao, D, Knapp, S and James, MN (2003). Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol 327: 1093-1109. (Pubitemid 36363715)
28. Altschul, SF, Gish, W, Miller, W, Myers, EW and Lipman, DJ (1990). Basic local alignment search tool. J Mol Biol 215: 403-410.
29. Dudek, MJ and Ponder, JW (1995). Accurate modeling of the intramolecular electrostatic energy of proteins. J Comput Chem 16: 791-816.
30. Kong, MJ and Ponder, JW (1997). Reaction feld methods for off-center multipoles. J Chem Phys 107: 481-492. (Pubitemid 127564373)
31. Pappu, RV, Hart, RK and Ponder, JW (1998). Analysis and application of potential energy smoothing and search methods for global optimization. J Phys Chem B102: 9725-9742. (Pubitemid 128591379)
32. Ren, P and Ponder, JW (2003). Polarizable atomic multipole water model for molecular mechanics simulation. J Phys Chem B107: 5933-5947.
33. Itakura, T, Kuroki, A, Ishibashi, Y, Tsuji, D, Kawashita, E, Higashine, Y et al. (2006). Ineffciency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fbroblastic cell line derived from Sandhoff disease model mice. Biol Pharm Bull 29: 1564-1569. (Pubitemid 44166352)
34. Tsuji, D, Higashine, Y, Matsuoka, K, Sakuraba, H and Itoh, K (2007). Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies. Clin Chim Acta 378: 38-41. (Pubitemid 46241058)
35. Suzuki, K (1987). Enzymatic diagnosis of sphingolipidosis. In: Ginsbury V (ed). Methods in Enzymology, vol. 138. Academic Press: New York. pp. 727-763.
36. Hakomori, S (1983). Sphingolipid Biochemistry. Plenum Press: New York