Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts

Neurobiology of Disease

Volumn 20, Issue 2, 2005, Pages 583-593

  Arfi, Audrey ^a   Bourgoin, Christophe ^a   Basso, Luisa ^b   Emiliani, Carla ^c   Tancini, Brunella ^c   Chigorno, Vanna ^b   Li, Yu Teh ^d   Orlacchio, Aldo ^c   Poenaru, Livia ^a   Sonnino, Sandro ^b   Caillaud, Catherine ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF PERUGIA   (Italy)

^d TULANE UNIVERSITY   (United States)

Author keywords

Cross correction; Gene therapy; Lentiviral vector; Sandhoff disease

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; COMPLEMENTARY DNA; GANGLIOSIDE; LENTIVIRUS VECTOR; MANNOSE 6 PHOSPHATE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; BETA HEXOSAMINIDASE DEFICIENCY; BIOACCUMULATION; CELL SECRETION; CONTROLLED STUDY; ENDOCYTOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME METABOLISM; ENZYME RELEASE; ENZYME SUBSTRATE; ENZYME SUBUNIT; FIBROBLAST; GENE; GENE CONSTRUCT; GENE MUTATION; GENETIC TRANSDUCTION; HEXA GENE; HEXB GENE; HUMAN; HUMAN CELL; LYSOSOME; PRIORITY JOURNAL; SANDHOFF DISEASE; VIRAL GENE DELIVERY SYSTEM;

ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; CATTLE; CELL LINE; DOWN-REGULATION; ENDOCYTOSIS; FIBROBLASTS; G(M2) GANGLIOSIDE; GENE THERAPY; GENETIC VECTORS; HUMANS; ISOENZYMES; LENTIVIRUS; LYSOSOMES; MANNOSEPHOSPHATES; SANDHOFF DISEASE; TRANSDUCTION, GENETIC;

EID: 26944461202     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2005.04.017     Document Type: Article

References (48)

1. D. Acquotti, L. Poppe, J. Dabrowski, G.W. von der Lieth, S. Sonnino, and G. Tettamanti Three-dimensional structure of the oligosaccharide chain of GM1 ganglioside revealed by a distance-mapping procedure: a rotating and laboratory frame nuclear overhauser enhancement investigation of native glycolipid in dimethyl sulfoxide and in water-dodecylphosphocholine solutions J. Am. Chem. Soc. 112 1990 7772 7778
2. S. Akli, J.E. Guidotti, E. Vigne, M. Perricaudet, K. Sandhoff, and A. Kahn Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer Gene Ther. 3 1996 769 774
3. J. Attal, M.C. Theron, C. Puissant, and L.M. Houdebine Effect of intercistronic length on internal ribosome entry site (IRES) efficiency in bicistronic mRNA Gene Expr. 8 1999 299 309
4. N.W. Barton, R.O. Brady, J.M. Dambrosia, A.M. Di Bisceglie, S.H. Doppelt, and S.C. Hill Replacement therapy for inherited enzyme deficiency-macrophage- targeted glucocerebrosidase for Gaucher's disease N. Engl. J. Med. 324 1991 1464 1470
5. J. Bayleran, P. Hechtman, and W. Saray Synthesis of 4-methylumbelliferyl- beta-d-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes Clin. Chim. Acta 143 1984 73 89
6. T.M. Bearpark, and J.L. Stirling A difference in the specificities of human liver N-acetyl-beta-hexosaminidases A and B detected by their activities towards glycosaminoglycan oligosaccharides Biochem. J. 173 1978 997 1000
7. S.E. Braun, E.L. Aronovich, R.A. Anderson, P.L. Crotty, R.S. McIvor, and C.B. Whitley Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase Proc. Natl. Acad. Sci. U. S. A. 90 1993 11830 11834
8. P. Brocca, D. Acquotti, and S. Sonnino 1H-NMR study on ganglioside amide protons: evidence that the deuterium exchange kinetics are affected by the preparation of samples Glycoconjugate J. 10 1993 441 446
9. C. Chen, and H. Okayama High-efficiency transformation of mammalian cells by plasmid DNA Mol. Cell. Biol. 7 1987 2745 2752
10. F. Dittmer, E.J. Ulbrich, A. Hafner, W. Schmahl, T. Meister, and R. Pohlmann Alternative mechanisms for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific J. Cell Sci. 112 1999 1591 1597
11. T. Dull, R. Zufferey, M. Kelly, R.J. Mandel, M. Nguyen, and D. Trono A third-generation lentivirus vector with a conditional packaging system J. Virol. 72 1998 8463 8471
12. A. Follenzi, L.E. Ailles, S. Bakovic, M. Geuna, and L. Naldini Gene transfer by lentiviral vectors is limited by nuclear translocation and rescued by HIV-1 pol sequences Nat. Genet. 25 2000 217 222
13. G.A. Grabowski, N.W. Barton, G. Pastores, J.M. Dambrosia, T.K. Banerjee, and M.A. McKee Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources Ann. Intern. Med. 122 1995 33 39
14. R.A. Gravel, M.M. Kaback, R.L. Proia, K. Sandhoff, K. Suzuki, and K. Suzuki C.R. Scriver A.L. Beaudet D. Valle W.S. Sly The Metabolic and Molecular Bases of Inherited Disease vol. 3 2001 McGraw-Hill Inc New York 3827 3876
15. J. Guidotti, S. Akli, L. Castelnau-Ptakhine, A. Kahn, and L. Poenaru Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells Hum. Mol. Genet. 7 1998 831 838
16. J.E. Guidotti, A. Mignon, G. Haasz, C. Caillaud, N. McDonell, and A. Kahn Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice Hum. Mol. Genet. 8 1999 831 838
17. A. Hasilik, and E.F. Neufeld Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues J. Biol. Chem. 255 1980 4946 4950
18. S.T. Hepbildikler, R. Sandhoff, M. Kolzer, R.L. Proia, and K. Sandhoff Physiological substrates for human lysosomal beta-hexosaminidase S J. Biol. Chem. 277 2001 2562 2572
19. Y. Hou, R. Tse, and D.J. Mahuran Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A Biochemistry 35 1996 3963 3969
20. J.U. Ikonne, M.C. Rattazzi, and R.J. Desnick Characterization of Hex S, the major residual beta hexosaminidase activity in type O GM2 gangliosidosis (Sandhoff-Jatzkewitz disease) Am. J. Hum. Genet. 27 1975 639 650
21. E.Y. Kim, Y.B. Hong, Z. Lai, H.J. Kim, Y.H. Cho, and R.O. Brady Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease Biochem. Biophys. Res. Commun. 318 2004 381 390
22. S. Kornfeld Trafficking of lysosomal enzymes FASEB J. 1 1997 462 468
23. H.J. Kytzia, and K. Sandhoff Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A J. Biol. Chem. 260 1985 7568 7572
24. H.D. Lacorazza, and M. Jendoubi In situ assessment of beta-hexosaminidase activity BioTechniques 19 1995 434 440
25. L. Leinekugel, S. Michel, E. Conzelmann, and K. Sandhoff Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease Hum. Genet. 88 1992 513 523
26. O.H. Lowry, N.J. Rosebrough, A.L. Farr, and R.J. Randall Protein measurement with the Folin phenol reagent J. Biol. Chem. 193 1951 265 275
27. D.J. Mahuran Biochemical consequences of mutations causing the GM2 gangliosidoses Biochim. Biophys. Acta 1455 1999 105 138
28. P.E. Mangeot, D. Negre, B. Dubois, A.J. Winter, P. Leissner, and M. Mehtali Development of minimal lentivirus vectors derived from simian immunodeficiency virus (SIVmac251) and their use for gene transfer into human dendritic cells J. Virol. 74 2000 8307 8315
29. S. Martino, C. Emiliani, A. Orlacchio, R. Hosseini, and J.L. Stirling Beta-N-acetylhexosaminidases A and S have similar sub-cellular distributions in HL-60 cells Biochim. Biophys. Acta 1243 1995 489 495
30. S. Martino, C. Emiliani, B. Tancini, G.M. Severini, V. Chigorno, and C. Bordignon Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy J. Biol. Chem. 277 2002 20177 20184
31. L. Naldini, U. Blomer, P. Gallay, D. Ory, R. Mulligan, and F.H. Gage In vivo gene delivery and stable transduction of non-dividing cells by a lentiviral vector Science 272 1996 262 267
32. E.F. Neufeld Lysosomal storage diseases Annu. Rev. Biochem. 60 1991 257 280
33. F. Norflus, C.J. Tifft, M.P. McDonald, G. Goldstein, J.N. Crawley, and A. Hoffmann Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice J. Clin. Invest. 101 1998 1881 1888
34. K. Ohashi, F. Park, and M.A. Kay Role of hepatocyte direct hyperplasia in lentivirus-mediated liver transduction in vivo Hum. Gene Ther. 13 2002 653 663
35. D. Phaneuf, N. Wakamatsu, J.Q. Huang, A. Borowski, A.C. Peterson, and S.R. Fortunato Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases Hum. Mol. Genet. 5 1996 1 14
36. R.L. Proia, A. d'Azzo, and E.F. Neufeld Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts J. Biol. Chem. 259 1984 3350 3354
37. J. Sambrook, E.F. Fritsch, and T. Maniatis Molecular Cloning: a Laboratory Manual 2nd ed. 1989 Cold Spring Harbor Laboratory Press Cold Spring Harbor, NY
38. S. Sonderfeld-Fresko, and R.L. Proia Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system J. Biol. Chem. 263 1988 13463 13469
39. S. Sonnino, M. Nicolini, and V. Chigorno Preparation of radiolabeled gangliosides Glycobiology 6 1996 479 487
40. S. Sonnino, V. Chigorno, and G. Tettamanti Preparation of radioactive gangliosides, 3H or 14C isotopically labeled at oligosaccharide or ceramide moieties Methods Enzymol. 311 2000 639 656
41. R.M. Taylor, and J.H. Wolfe Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of beta-glucuronidase Nat. Med. 3 1997 771 774
42. G. Tettamanti, F. Bonali, S. Marchesini, and V. Zambotti A new procedure for the extraction, purification and fractionation of brain gangliosides Biochim. Biophys. Acta 296 1973 160 170
43. G.H. Thomas "Pseudodeficiencies" of lysosomal hydrolases Am. J. Hum. Genet. 54 1994 934 940
44. G.R. Villani, A. Follenzi, B. Vanacore, C. Di Domenico, L. Naldini, and P. Di Natale Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer Biochem. J. 364 2002 747 753
45. J.H. Wolfe, E.H. Schuchman, L.E. Stramm, E.A. Concaugh, M.E. Haskins, and G.D. Aguirre Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer Proc. Natl. Acad. Sci. U. S. A. 87 1990 2877 2881
46. J.H. Wolfe, J.W. Kyle, M.S. Sands, W.S. Sly, D.G. Markowitz, and M.K. Parente High level expression and export of beta-glucuronidase from murine mucopolysaccharidosis VII cells corrected by a double-copy retrovirus vector Gene Ther. 2 1995 70 78
47. Y.-Y. Wu, J.M. Lockyer, E. Sugiyama, N.V. Pavlova, Y.-T. Li, and S.-C. Li Expression and specificity of human GM2 activator protein J. Biol. Chem. 269 1994 16276 16283
48. L. Zhannan, and R.O. Brady Gene transfer into the CNS in vivo using a recombinant lentivirus vector J. Neurosci. Res. 67 2002 363 371