Genetic correction of dystrophin deficiency and skeletal muscle remodeling in adult MDX mouse via transplantation of retroviral producer cells

Journal of Clinical Investigation

Volumn 100, Issue 3, 1997, Pages 620-628

  Fassati, Ariberto ^a,b   Wells, Dominic J ^c   Serpente, Patricia A Sgro ^a   Walsh, Frank S ^b   Brown, Susan C ^a   Strong, Peter N ^d   Dickson, George ^a  

^a UNIVERSITY OF LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Duchenne muscular dystrophy; Dystrophin; Gene therapy; Muscle stem cells; Retroviral vectors

Indexed keywords

DYSTROPHIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL TRANSPLANTATION; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; GENE TRANSFER; HUMAN; HUMAN TISSUE; MOUSE; MUSCLE ATROPHY; MUSCLE REGENERATION; NONHUMAN; PRIORITY JOURNAL; RETROVIRUS; SKELETAL MUSCLE; TIBIALIS ANTERIOR MUSCLE; X CHROMOSOME LINKAGE;

EID: 0030755548     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119573     Document Type: Article

References (45)

1. Hoffman, E.P., R.H. Brown, and L.M. Kunkel. 1987. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 51:919-928.
2. Emery, A.E.H. 1993. Duchenne Muscular Dystrophy (Second Edition). Oxford University Press, Oxford, United Kingdom. 182-189.
3. Bulfield, G., W.G. Siller, P.A.L. Wight, and K.J. Moore. 1984. X chromosome - linked muscular dystrophy (mdx) in the mouse. Proc. Natl. Acad. Sci. USA. 81:1189-1192.
4. Cooper, BJ., N.J. Winand, H. Stedman, B.A. Valentine, E.P. Hoffman, L.M. Kunkel, M.-O. Scott, K.H. Fischbeck, J.N. Kornegay, R.J. Avery, et al. 1988. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature (Lond.). 334:154-156.
5. Allbrook, D. 1981. Skeletal muscle regeneration. Muscle Nerve. 4:234-245.
6. Schultz, E., and K.M. McCormick. 1993. Cell biology of the satellite cell. In Molecular and Cell Biology of Muscular Dystrophy. T.E. Partridge, editor. Chapman & Hall, London, United Kingdom.
7. Fassati, A., D.J. Wells, F.S. Walsh, and G. Dickson. 1996. Transplantation of retroviral producer cells for in vivo gene transfer into mouse skeletal muscle. Hum. Gene Ther. 7:595-602.
8. England, S,B., L.V.B. Nicholson, M.A. Johnson, S.M. Forrest, D.R. Love, E.E. Zubrzycka-Gaarn, D.E. Bulman, J.B. Harris, and K.E. Davies. 1990. Very mild muscular dystrophy associated with deletion of 46% of dystrophin. Nature (Lond.). 343:180-182.
9. Ragot, T., N. Vincent, P. Chafey, E. Vigne, H. Gilgenkrantz. D. Couton, J. Cartaud, P. Briand, J.C. Kaplan, M. Perricaudet, and A. Kahn. 1993. Efficient adenovirus-mediated transfer of a human mini-dystrophin gene to skeletal muscle of mdx mice. Nature (Lond.). 361:647-650.
10. Vincent, N., T. Ragot, H. Gilgenkrantz, D. Couton, P. Chafey, A. Grégoire, P. Briand, J.-C. Kaplan, A. Kahn, and M. Perricaudet. 1993. Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene. Nat. Genet. 5:130-134.
11. Cox, G.A., N.M. Cole, K. Matsumura, S.F. Phelps, S.D. Hauschka, K.P. Campbell, J.A. Faulkner, and J.S. Chamberlain. 1993. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature (Lond.). 364:725-729.
12. Wells, D.J., K.E. Wells, F.S. Walsh, K.E. Davies, G. Goldspink, D.R. Love, P. Chan-Thomas, M.G. Dunckley, T. Piper, and G. Dickson. 1992. Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice. Hum. Mol. Genet. 1:35-40.
13. Wells, D.J., K.E. Wells, E.A. Asante, G. Turner, Y. Sunada, K.P. Campbell, F.S. Walsh, and G. Dickson. 1995. Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum. Mol. Genet. 4:1245-1250.
14. Phelps, S.F., M.A. Hauser, N.M. Cole, J.A. Rafael, J.A. Faulkner, and J.S. Chamberlain. 1995. Prevention of muscular dystrophy by full-length and internally truncated dystrophins. Hum. Mol. Genet. 4:1251-1258.
15. Dunckley, M.G., D.J. Wells, F.S. Walsh, and G. Dickson. 1993. Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo. Hum. Mol. Genet. 2:717-723.
16. Acsadi, G., H. Lochmuller, A. Jani, J. Huard, B. Massie, S. Prescott, M. Simoneau, B.J. Petrof, and G. Karpati. 1995. Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum. Gene Ther. 1:129-140.
17. Pegoraro, E., R.N. Schimke, C. Garcia, H. Stern, M. Cadaldini, C. Angelini, E. Barbosa, J. Carroll, W.A. Marks, H.E. Neville, et al. 1995. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin competent myonuclei. Neurology. 45:677-690.
18. Hoffman, E.P., K. Arahata, C. Minetti, E. Bonilla, and L.P. Rowland. 1992. Dystrophinopathy in isolated cases of myopathy in females. Neurology. 42:967-975.
19. Adam, M.A., N. Ramesh, A.D. Miller, and W.R.A. Osborne. 1991. Internal initiation of translation in retroviral vectors carrying picornavirus 5′ non-translated regions. J. Virol. 65:4985-4990.
20. Palmer, T.D., A.D. Miller, R.H. Reeder, and B. McStay. 1993. Efficient expression of a protein coding gene under the control of an RNA polymerase I promoter. Nucleic Acids Res. 21:3451-3457.
21. Acsadi, G., G. Dickson, D.R. Love, A. Jani, F.S. Walsh, A. Gurusinghe, J.A. Wolff, and K.E. Davies. 1991. Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature (Lond.). 352:815-818.
22. Markowitz, D., S. Goff, and A. Bank. 1988. Construction and use of a safe and efficient amphotropic packaging cell line. Virology. 167:400-406.
23. Fassati, A., Y. Takahara, F.S. Walsh, and G. Dickson. 1994. Production of high titre helper-free recombinant retroviral vectors by lipofection. Nucleic Acids Res. 22:1117-1118.
24. Danos, O. 1991. Construction of retroviral packaging cell lines. In Practical Molecular Virology. M.K.L. Collins, editor. The Humana Press Inc., Clifton, NJ. 24.
25. Takahara, Y., K. Hamada, and D. Housman. 1992. A new retrovirus packaging cell for gene transfer constructed from amplified long terminal repeat-free chimeric proviral genes. J. Virol. 66:3725-3732.
26. Fassati, A., D.J. Wells, F.S. Walsh, and G. Dickson. 1995. Efficiency of in vivo gene transfer using murine retroviral vectors is strain-dependent in mice. Hum. Gene Ther. 6:1177-1183.
27. Nicholson, L.V., K. Davison, G. Falkous, C. Harwood, E. O'Donnell, C. Slater, and J.B. Harris. 1989. Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody. J. Neurol. Sci. 94:125-136.
28. Cullen, M.J., J. Walsh, L.V. Nicholson, J.B. Harris, E.E. Zubrzycka-Gaarn, P.N. Ray, and R.G. Worton. 1991. Immunogold labeling of dystrophin in human muscle using an antibody to the last 17 amino acids of the C-terminus. Neuromuscul. Disord. 1:113-119.
29. Man, N.T., A.J. Cartwright, G.E. Morris, D.R. Love, J.F. Bloomfield, and K.E. Davies. 1990. Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin. FEBS (Fed. Eur. Biochem. Soc.) Lett. 262:237-240.
30. Man, N.T., and G.E. Morris. 1993. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. Am. J. Hum. Genet. 52:1057-1066.
31. Sherrat, T.G., T. Vulliamy, and P.N. Strong. 1992. Evolutionary conservation of the dystrophin central rod domain. Biochem. J. 287:755-759.
32. Moore, S.E., and F.S. Walsh. 1985. Specific regulation of N-CAM/D2-CAM cell adhesion molecule during skeletal muscle development. EMBO (Eur. Mol. Biol. Organ.) J. 4:623-630.
33. Dunckley, M.G., K.E. Davies, F.S. Walsh, G.E. Morris, and G. Dickson. 1992. Retroviral-mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro. FEBS (Fed. Eur. Biochem. Soc.) Lett. 296:128-134.
34. Flecknell, P.A. 1987. Laboratory Animal Anesthesia. Academic Press, London. 125 pp.
35. Caldwell, C.J., D.L. Mattey, and R.O. Weller. 1990. Role of the basement membrane in the regeneration of skeletal muscle. Neuropathol. Appl. Neurobiol. 16:225-238.
36. Kinoshita, I., J.T. Vilquin, B. Guerette, I. Asselin, R. Roy, and J.P. Tremblay. 1994. Very efficient myoblast allotransplantation in mice under FK506 immunosuppression. Muscle Nerve. 17:1407-1415.
37. Tinsley, J.M., D.J. Blake, R.A. Zuellig, and K.E. Davies. 1994. Increased complexity of the dystrophin-associated protein complex. Proc. Natl. Acad. Sci. USA. 91:8307-8313.
38. Campbell, K.P. 1995. Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell. 80:675-679.
39. Worton, R. 1995. Muscular dystrophies: diseases of the dystrophin glycoprotein complex. Science (Wash. DC). 270:755-756.
40. Cashman, N.R., J. Covault, R.L. Wollman, and J.R. Sanes. 1987. Neural cell adhesion molecule in normal, denervated and myopathic human muscle. Ann. Neurol. 21:481-489.
41. Dubois, C., D. Figarella-Branger, J. Nedelec, J.F. Pellissier, J. Boucraut, N. Bianco, and G. Rougon. 1990. Expression of various isoforms of neural cell adhesive molecules and their highly polysialylated counterparts in diseased human muscles. J. Neurol. Sci. 98:21-36.
42. Poole-Wilson, P.A., and P.H. Sugden. 1996. Physiological considerations: biochemistry and cellular physiology of heart muscle. In Oxford Textbook of Medicine. D.J. Weatherall, J.C.C. Ledingham, and D.A. Warrell, editors. Oxford Medical Publications, Oxford, United Kingdom. 2142.
43. Naldini, L., U. Blomer, P. Gallay, D. Ory, R. Mulligan, F.H. Gage, I.M. Verma, and D. Trono. 1996. In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science (Wash. DC). 272:263-267.
44. Overturf, K., M. Al-Dhalimy, R. Tanguay, M. Brantly, C.-N. Ou, M. Finegold, and M. Grompe. 1996. Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I. Nat. Genet. 12:266-273.
45. Rafael, J.A., G.A. Cox, K. Corrado, D. Jung, K.P. Campbell, and J.S. Chamberlain. 1996. Forced expression of dystrophin deletions constructs reveals structure-function correlations. J. Cell Biol. 134:93-102.