Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy

Journal of Clinical Investigation

Volumn 98, Issue 2, 1996, Pages 497-502

  Fillat, Cristina ^a   Simonaro, Calogera M ^a   Yeyati, Patricia L ^a   Abkowitz, Janis L ^b   Haskins, Mark E ^c   Schuchman, Edward H ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

animal models; gene therapy; lysosomal storage diseases

Indexed keywords

COMPLEMENTARY DNA; GLYCOSAMINOGLYCAN; N ACETYLGALACTOSAMINE 4 SULFATASE; SOMATOMEDIN B RECEPTOR; SULFATE; VIRUS VECTOR;

ANIMAL CELL; ANIMAL MODEL; ARTICLE; BONE MARROW CELL; CARTILAGE CELL; ENZYME ACTIVITY; GENE; GENE THERAPY; GENE TRANSFER; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; MAROTEAUX LAMY SYNDROME; MUCOPOLYSACCHARIDOSIS; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RAT; RETROVIRUS; SKIN FIBROBLAST;

EID: 0030016887     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118817     Document Type: Article

References (29)

1. Neufeld, E.F., and J. Muenzer. 1995. The mucopolysaccharidoses. In "The Metabolic and Molecular Bases of Inherited Disease" C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. 7th ed. McGraw-Hill, New York. 2465-2494.
2. Jezyk, P.F., M.E. Haskins, and D.F. Patterson. 1977. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science (Wash. DC). 198:834-836.
3. Yoshida, M., J. Noguchi, H. Ikadai, M. Takahashi, and S. Nagase. 1993. Arylsulfatase B-deficient mucopolysaccharidosis in the rat. J. Clin. Invest. 91: 1099-1104.
4. Neer, T.M., S.M. Dial, R. Pechman, P. Wang, and U. Giger. 1992. Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) in a miniature pinscher. J. Vet. Int. Med. 6:124.
5. McGovern, M.M., M.D. Ludman, M.P. Short, L. Steinfeld, M. Kattan, E.L. Raab, W. Krivit, and R.J. Desnick. 1986. Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects. 22:25-53.
6. Schuchman, E.H., C.E. Jackson, and R.J. Desnick. 1990. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatase A and C. Genomics. 6:149-158.
7. Peters, C., B. Schmidt, R. Pohlmann, and K. von Figura. 1990. Phylogeneic conservation of arylsulfatases: cDNA cloning and expression of human arylsulfatase B. J. Biol. Chem. 265:3374-3381.
8. Jackson, C.E., N. Yuhki, R.J. Desnick, M.E. Haskins, S.J. O'Brien, and E.H. Schuchman. 1992. Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. Genomics. 14:403-411.
9. Kunieda, T., C.M. Simonaro, M. Yoshida, H. Ikadai, G. Levran, R.J. Desnick, and E.H. Schuchman. 1995. Mucopolysaccharidosis type VI in rats. Isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation. Genomics. 29:582-587.
10. Modaressi, S., K. Rupp, K. von Figura, and C. Peters. 1993. Structure of the human arylsulfatase B gene. Biol. Chem. Hoppe-Seyler. 374:327-335.
11. Anson, D.S., J.A. Taylor, J. Bielicki, G.S. Harper, C. Peters, G.J. Gibson, and J.J. Hopwood. 1992. Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase. Biochem. J. 284:789-794.
12. Jin, W.-D., C.E. Jackson, R.J. Desnick, and E.H. Schuchman. 1992. Mucopolysaccharidosis type VI: Identification of three mutations in the arylsulfalase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am. J. Hum. Gene. 50:795-800.
13. Isbrandt, D., G. Arlt, D. Brooks, J.J. Hopwood, K. von Figura, and C. Peters. 1994. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Am. J. Hum. Genet. 54:454-463.
14. Peters, C., W. Rommerskirch, S. Modaressi, and K. von Figura. 1991. Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts. Biochem. J. 276:499-504.
15. Anson, D.S., V. Muller, J. Bielicki, G.S. Harper, and J.J. Hopwood. 1993. Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts. Biochem. J. 294:657-662.
16. Horton, R.M., H.D. Hunt, S.N. Ho, J.K. Pullen, and L.R. Pease. 1989. Engineering hybrid genes without the use of restriction enzymes: gene splicing by overlap extension. Gene. 77:61-68.
17. Sanger, F., S. Nicklen, and A.R. Coulson. 1977. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA. 74:5463-5467.
18. Markowitz, D., S. Goff, and A. Bank. 1988. Construction and use of a safe and efficient amphotropic packaging cell line. Virology. 167:400-406.
19. McGovern, M.M., D.T. Vine, M.E. Haskins, and R.J. Desnick. 1981. An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase B deficiency. Enzyme. 26:206-210.
20. Suchi, M., T. Dinur, R.J. Desnick, S. Galt, L. Pereira, E. Gilboa, and E.H. Schuchman. 1992. Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. Proc. Natl. Acad. Sci. USA. 91:4332-4337.
21. Bujia, J., D. Kremerr, H. Sudhoff, E. Viviente, C. Sprekelsen, and E. Wilmes. 1995. Determination of viability of cryopreserved cartilage grafts. Eur. Arch. Otorhinolar. 252:30-34.
22. Legros, M., J. Fleury, H. Cure, P. Condat, A. Lenat, E. Subtil, D. Sanderson, Y. Communal, M. Basile, F. Tavernier, et al. 1995. New method for stem cell quantification: applications to the management of peripheral blood stem cell transplantation. Bone Marrow Transplant. 15:1-8.
23. Bienzle, D., A.C.G. Abrams-Ogg, S.A. Kruth, J. Ackland-Snow, R.F. Carter, J.E. Kick, R.M. Jacobs, S. Kamel-Reid, and I.D. Dube. 1994. Gene transfer into hematopoietic stem cells. Long-term maintenance of in vitro activated progenitors without marrow ablation. Proc. Natl. Acad. Sci. USA. 91:350-354.
24. Saiki, R.K., D.H. Gelfand, S. Sfofferl, S.J. Scharf, R. Higuchi, G.T. Horn, K.B. Mullis, and H. A. Erlich. 1988. Primer directed amplification of DNA with a thermostable DNA polymerase. Science (Wash. DC). 239:487-491.
25. Tsukazaki, T., T. Usa, T. Matsumoto, H. Enomoto, A. Ohtsuru, H. Namba, K. Iwasaki, and S. Yamashita. 1994. Effect of transforming growth factor-β on the insulin-like growth factor-1 autocrine/paracrine axis in cultured rat articular chondrocytes. Exp. Cell Res. 215:9-16.
26. Haskins, M., H.J. Baker, E. Birkenmeier, P.M. Hoogerbrugge, B.J. Poorthuis, T. Sakiyama, R.M. Shull, R.M. Taylor, M. Thrall, and S.J. Walkley. 1991. Transplantation in animal models systems. In Treatment of Genetic Diseases. R. J. Desnick, editor. Churchhill-Livingstone, New York. 183-203.
27. Sands, M.S., J.E. Barker, C. Vogler, B. Levy, B. Gwynn, N. Galvin, W.S. Sly, and E. Birkenmeier. 1993. Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates. Lab. Invest. 68:676-686.
28. Birkenmeier, E.H., J.E. Barker, C.A. Vogler, J. Kyle, W.S. Sly, B. Gwynn, et al. 1992. Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation. Blood. 78:3081-3092.
29. Dobrenis, K., D.A. Wenger, and S.U. Walkley. 1994. Lysosomal glycosidases in cultures of cat microglia. Mol. Biol. Cell. 5:113A.