Monitoring Duchenne Muscular Dystrophy Gene Therapy with Epitope-Specific Monoclonal Antibodies

Methods in Molecular Biology

Volumn 709, Issue , 2011, Pages 39-61

  Morris, Glenn ^a,b   Man, Nguyen thi ^a,b   Sewry, Caroline A ^a,b  

^a KEELE UNIVERSITY   (United Kingdom)

^b KEELE UNIVERSITY   (United Kingdom)

Author keywords

Duchenne muscular dystrophy; Dystrophin; Epitope mapping; Immunofluorescence microscopy; Immunoperoxidase; Monoclonal antibody; Muscle biopsy; Revertant fibres; Utrophin

Indexed keywords

DYSTROPHIN; MONOCLONAL ANTIBODY;

ARTICLE; DUCHENNE MUSCULAR DYSTROPHY; ENZYME IMMUNOASSAY; EPITOPE MAPPING; FLUORESCENCE MICROSCOPY; FLUORESCENT ANTIBODY TECHNIQUE; GENE THERAPY; GENETICS; HUMAN; IMMUNOLOGY; MUSCLE;

ANTIBODIES, MONOCLONAL; DYSTROPHIN; EPITOPE MAPPING; FLUORESCENT ANTIBODY TECHNIQUE; GENE THERAPY; HUMANS; IMMUNOENZYME TECHNIQUES; MICROSCOPY, FLUORESCENCE; MUSCLES; MUSCULAR DYSTROPHY, DUCHENNE;

EID: 79960058937     PISSN: 10643745     EISSN: 19406029     Source Type: Book Series    
DOI: 10.1007/978-1-61737-982-6_3     Document Type: Chapter

References (35)

1. Koenig, M., Beggs, A.H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., et al. (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45, 498–506.
2. Emery, A.E. and Muntoni, F. (2003) Duchenne Muscular Dystrophy, 3rd Edn, O.U.P., Oxford.
3. Helliwell, T.R., Ellis, J.M., Mountford, R.C., Appleton, R.E. and Morris, G.E. (1992) A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane. Am J Hum Genet 50, 508–514.
4. Roberts, R.G., Gardner, R.J. and Bobrow M. (1994) Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat 4, 1–11.
5. Mendell, J.R., Kissel, J.T., Amato, A.A., King, W., Signore, L., Prior, T.W., et al. (1993) Myoblast transfer in the treatment of Duchenne’s Muscular Dystrophy. New Engl J Med 333, 832–838.
6. Gussoni, E., Bennett, R.R., Gilgof f, I., Stein, J., Chan, Y., Muskiewicz, K.R., et al. (2002) Detection of donor nuclei in the muscles of a Duchenne muscular dystrophy patient 13 years following bone marrow transplantation. J Clin Invest 110, 807–814.
7. Romero, N.B., Braun, S., Benveniste, O., Leturcq, F., Hogrel, J.Y., Morris, G.E., et al (2004) Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. Hum Gene Ther 15, 1065–1076.
8. Welch, E.M., Barton, E.R., Zhuo, J., Tomizawa, Y., Friesen, W.J., Trifillis, P., et al. (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447, 87–91.
9. Kinali, M., Arechavala-Gomeza, V., Feng, L., Cirak, S., Hunt, D., Adkin, C., Guglieri, M., Ashton, E., Abbs, S., Nihoyannopoulos, P., Garralda, M.E., Rutherford, M., McCulley, C., Popplewell, L., Graham, I.R., Dickson, G., Wood, M.J., Wells, D.J., Wilton, S.D., Kole, R., Straub, V., Bushby, K., Sewry, C., Morgan, J.E. and Muntoni, F. (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 8, 918–928.
10. Braun, S., Thioudellet, C., Rodriguez, P., Ali-Hadji, D., Perraud, F., Accart, N., et al. (2000) Immune rejection of human dystrophin following intramuscular injections of naked DNA in mdx mice. Gene Ther 7, 1447–1457.
11. Nguyen, T.M., Ellis, J.M., Love, D.R., Davies, K.E., Gatter, K.C., Dickson, G. and Morris, G.E. (1991) Localization of the DMDL-gene-encoded dystrophin-related protein using a panel of 19 monoclonal antibodies. Presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles and in proliferating brain cell lines. J Cell Biol 115, 1695–1700.
12. Burton, E.A., Tinsley, J.M., Holzfeind, P.J., Rodrigues, N.R. and Davies, K.E. (1999) A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy. Proc Natl Acad Sci USA 96, 14025–14030.
13. Klein, C.J., Coovert, D.D., Bulman, D.E., Ray, P.N., Mendell, J.R. and Burghes, A.H. (1992) Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet 50, 950–959.
14. Le, T.T., Nguyen, T.M., Helliwell, T.R. and Morris, G.E.(1995) Characterization of rever-tant muscle fibres in Duchenne Muscular Dystrophy using exon-specific monoclonal antibodies against dystrophin. Am J Hum Genet 56, 725–731.
15. Lu, Q.L., Morris, G.E., Wilton, S.D., Ly, T., Artem’yeva, O.V., Strong, P. and Partridge, T.A. (2000) Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional rever-tant fibres by clonal expansion. J Cell Biol 148, 985–996.
16. Partridge, T.A., Lu, Q., Morris, G. E. and Hoffmann, E. (1998) Is myoblast transplantation effective? Nat Med 4, 1208–1209.
17. Le, T.T., Nguyen, T.M., Love, D.R., Helliwell, T.R., Davies, K.E. and Morris, G.E (1993) Monoclonal antibodies against the muscle specific N-terminus of dystrophin: characterizaton of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7. Am J Hum Genet 53, 131–139.
18. Morris, G. E., Nguyen, C. and Nguyen, T.M. (1995) Specificity and VH sequence of two monoclonal antibodies against the N-terminus of dystrophin. Biochem J 309, 355–359.
19. Bartlett, R.J., Stockinger, S., Denis, M.M., Bartlett, W.T., Inverardi, L., Le, T.T., et al. (2000) In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide. Nat Biotechnol 18, 615–622.
20. Ahmed, N., Nguyen, T.M. and Morris, G. E. (1998) Flexible hinges in dystrophin. Biochem Soc Trans 26, S310.
21. Nguyen, T.M., Cartwright, A. J., Morris, G. E., Love, D.R., Bloomfield, J. F. and Davies, K. E. (1990) Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin. FEBS Lett 262, 237–240.
22. Nguyen, T.M. and Morris, G.E. (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.
23. Nguyen, T.M., Ginjaar, H.B., van Ommen, G.J.B. and Morris, G.E. (1992) Monoclonal antibodies for dystrophin analysis: epitope mapping and improved binding to SDS-treated muscle sections. Biochem J 288, 663–668.
24. James, M., Nguyen, T.M., Edwards, Y.H. and Morris, G.E. (1997) The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin. Biochim Biophys Acta 1360, 169–176.
25. Le, T.T., Nguyen, T.M., Hori, S., Sewry, C.A., Dubowitz, V. and Morris, G.E. (1995) Characterization of genetic deletions in Becker Muscular Dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin. Am J Med Genet 58, 177–186.
26. Morris, G.E., Sedgwick, S. G., Ellis, J. M., Pereboev, A., Chamberlain, J. S. and Nguyen, T.M. (1998) An epitope structure for the C-terminal domain of dystrophin and utrophin. Biochemistry 37, 11117–11127.
27. Simmons, C. (1997) Monoclonal antibody studies of an alternatively-spliced region of dystrophin. M. Phil. thesis (University of Salford).
28. Morris, G. E., Nguyen, T.M., Nguyen, T.N., Pereboev, A., Kendrick-Jones, J. and Winder S. J. (1999) Disruption of the utrophin-actin interaction by monoclonal antibodies and prediction of an actin-binding surface of utrophin. Biochem J 337, 119–123.
29. Dunckley, M.G., Love, D.R., Davies, K.E., Walsh, F.S., Morris, G.E. and Dickson, G. (1992) Retroviral-mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro. FEBS Lett 296, 128–134.
30. Bartlett, R.J., Stockinger, S., Denis, M.M., Bartlett, W.T., Inverardi, L., Le, T.T., Nguyen, T.M., Morris, G.E., Bogan, D.J., Metcalf-Brogan, J. and Kornegay, J.N. (2000) In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/ DNA oligonucleotide. Nat Biotechnol 18, 615–622.
31. Lu, Q.L., Mann, C.J., Lou, F., Bou-Gharios, G., Morris, G.E., Xue, S.A., Fletcher, S., Partridge, T.A. and Wilton, S.D. (2003) Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 9, 1009–1014.
32. Bostick, B., Yue, Y., Long, C., Marschalk, N., Fine, D.M., Chen, J. and Duan, D. (2009) Cardiac expression of a mini-dystrophin that normalizes skeletal muscle force only partially restores heart function in aged mdx mice. Mol Ther 17, 253–261.
33. Lu, Q.L. and Partridge, T.A. (1998) A new blocking method for application of murine monoclonal antibody to mouse tissue sections. J Histochem Cytochem 46, 977–984.
34. Morris, G.E. (ed.) (1996) “Epitope Mapping Protocols” (Methods in Mol. Biol. vol. 66) Humana Press, Totowa.
35. Morris, G.E. (2008) “Epitope Mapping” in “Molecular Biomethods Handbook” (Rapley R. and Walker, J.M. eds.) Humana Press, Totowa, pp. 683–696.