Prospects of gene therapy for genetic skeletal muscle disease

Transfusion Science

Volumn 17, Issue 1, 1996, Pages 53-61

  Karpati, George ^a   Lochmüller, Hanns ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CD8 ANTIGEN; COMPLEMENTARY DNA; DYSTROPHIN; VIRUS VECTOR;

AGE; ANIMAL EXPERIMENT; ANIMAL MODEL; CONFERENCE PAPER; DOG; DUCHENNE MUSCULAR DYSTROPHY; GENE THERAPY; GENE TRANSFER; GENETIC TRANSDUCTION; HUMAN ADENOVIRUS; IMMUNE RESPONSE; MOUSE; MUSCLE CELL; MUSCLE NECROSIS; MYOPATHY; NONHUMAN; PROMOTER REGION; SARCOLEMMA; T LYMPHOCYTE ACTIVATION;

EID: 0029917646     PISSN: 09553886     EISSN: None     Source Type: Journal    
DOI: 10.1016/0955-3886(95)00058-5     Document Type: Conference Paper

References (52)

1. Karpati G, Acsadi G: The potential for gene therapy in muscular dystrophy and other genetic muscle diseases. Muscle & Nerve 1993; 16: 1141-1153.
2. Karpati G, Acsadi G: The principles of gene therapy in Duchenne muscular dystrophy. Clin Invest Med 1994; 17: 499-509.
3. Emery AEH: Duchenne Muscular Dystrophy, 2nd edn. New York, University Press, 1988; pp. 1-317.
4. Tomé FMS et al.: Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Ser III Sci Vie 1994; 317: 351-357.
5. Kaplan J-C, Campbell KP: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633.
6. Di Mauro S, Tsujino S, Shanske S, Rowland LP: Biochemistry and molecular genetics of human glycogenoses: An overview. Muscle & Nerve 1995; Suppl.3: S510-S517.
7. Acsadi G et al.: The principles of gene therapy for genetic diseases of muscle (Duchenne dystrophy), spinal motor neurons (spinal muscular atrophy) and Schwann cells Schwannopathies). Clin Neurosci 1995; 48: 76-85.
8. Acsadi G, Massie B, Jani A: Adenovirus-mediated gene transfer into striated muscles. J Mol Med 1995; 3: 579-584.
9. Slater GR, Harris JB: The anatomy and physiology of the motor unit, in Walton J, Karpati G, Hilton-Jones D (eds): Disorders of Voluntary Muscle. Edinburgh, Churchill Livingstone, 1994; pp. 3-32.
10. Walsh FS, Doherty P: Cell biology of muscle, in Walton J, Karpati G, Hilton-Jones D (eds): Disorders of Voluntary Muscle. Edinburgh, Churchill Livingstone, 1994; pp. 33-61.
11. Karpati G, et al.: Age-related conversion of dystrophin-negative to -positive fibre segments of skeletal but no cardiac muscle fibres in heterozygote mdx mice. J Neuropath Exp Neurol 1990; 49: 96-105.
12. Carpenter S, Karpati G: Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired. Brain 1979; 102: 147-161.
13. Grounds MD: Towards understanding skeletal muscle regeneration. Pathol Res Pract 1991; 118: 1-22.
14. Acsadi G, et al.: A different efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity. Hum Mol Genet 1994; 3: 579-584.
15. Acsadi G, et al.: Human dystrophin expression in mdx mice after injection of DNA constructs. Nature 1991; 352: 815-818.
16. Manthorpe M, et al.: Gene therapy by intramuscular injection of plasmid DNA: studies on firefly luciferase gene expression in mice. Hum Gene Ther 1993; 4: 419-431.
17. Yang Y, Burkholder J, Roberts B, Martinelli B, McCabe D: In vivo and in vitro gene transfer to mammalian somatic cells by particle bombardment. Proc Natl Acad Sci USA 1990; 87: 9568-9572.
18. Curiel DT, Aqarwal S, Wagner E, Cotton M: Adenovirus enhancement of transferrin-polylysin-mediated gene delivery. Proc Natl Acad Sci USA 1991; 88: 8850-8854.
19. Vincent N, et al.: Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene. Nature Genet 1994; 5: 130-134.
20. Ragot T, et al.: Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature 1993; 361: 647-650.
21. Alameddine HS, Quantin B, Cartaud A, Dehaupas M, Mandel JL, Fardeau M: Expression of a recombinant dystrophin in mdx mice using adenovirus vector. Neuromusc Disord 1994; 4: 193-203.
22. Acsadi G, et al.: Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum Gene Ther 1995; (in press).
23. Stratford-Perricaudet LD, Makeh I, Perricaudet M, Briand P: Widespread long-term gene transfer to mouse skeletal muscles and heart via an adenovirus vector. J Clin Invest 1992; 90: 626-630.
24. Dunckley MG, et al.: Retroviral-mediated transfer of a dystrophin minigene into mdx mouse myoblasts in vitro. FEBS Lett 1992; 296: 128-134.
25. Salvatori G, et al.: (1993) Retroviral vector-mediated gene transfer into human primary myogenic cells lead to expression in muscle fiber in vivo. Hum Gene Ther 4: 713-723.
26. Berkner KL: Development of adenovirus vectors for the expression of heterologous genes. Bio Tech 1988; 6: 616-629.
27. Graham FL, Prevec L: Adenovirus-based expression vectors and recombinant vaccines, in Ellis RW (ed): Vaccines: New Approaches to Immunological Problems. Boston, Butterworth-Heinemann, 1992; pp. 363-389.
28. Graham FL: Growth of 293 cells in suspension culture. J Gen Virol 1987; 68: 937-940.
29. 5 promote adenovirus internalization but not virus attachment. Cell 1993; 73: 309-319.
30. Jani A, Lochmüller H, Acsadi G, Huard J, Massie B, Karpati G: Generation and validation of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA. Virus Res Meth 1995; (submitted).
31. Yang Y, Nunes FA, Berencsi K, Furth EE, Ganczal E, Wilson JM: Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc Natl Acad Sci USA 1994; 91: 4407-4441.
32. Yang Y, Li Q, Ertl HCJ, Wilson J: Cellular and humoral immune responses to viral antigens create barriers to lung-directed gene therapy with recombinant adenoviruses. J Virol 1995; 69: 2004-2015.
33. England SB, et al.: Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990; 343: 180-182.
34. Hauser MS, Phelps SF, Chamberlain JS: Expression of dystrophin minigenes in the muscles of mdx mice partially prevents the development of dystrophic symptoms. Am J Hum Genet 1994; 55: A47.
35. Cox GA, et al.: Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 1993; 364: 725-729.
36. Klamut HJ, Gangopadhyay SB, Worton RG, Ray PN: Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Molec Cell Biol 1990; 10: 193-205.
37. Huard J, Lochmüller H, Acsadi G, Jani A, Massie B, Karpati G: The route of administration is a major determinant of the transduction efficiency of rat tissues by adenoviral recombinants. Gene Ther 1995; 2: 107-115.
38. Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Bruard PJ: The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 1989; 244: 1578-1580.
39. Stedman HH, et al.: The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy. Nature 1991; 352: 536-538.
40. Kornegay JN, Tuler SM, Miller DM, Levesque DC: Muscular dystrophy in a litter of golden retriever dogs. Muscle & Nerve 1988; 11: 1056-1064.
41. Arahata KM, Hayashi YK, Koga R: Laminin in animal models for muscular dystrophy: defect of laminin M in skeletal and cardiac muscle and peripheral nerve of the homozygous dystrophic dy/dy mice. Proc Japan Acad 1993; 69B 259-264.
42. Sunada Y, et al.: Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994; 269: 13729-13732.
43. Angelos et al.: Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle. Muscle & Nerve 1995; 18: 736-740.
44. Wolff JA, Ludtke JJ, Acsadi G, Jani A: Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle. Hum Mol Genet 1992; 1: 363-369.
45. Lochmüller H, et al.: Emergence of early region 1 (E1)-containing replication competent adenovirus in stocks of replication defective adenovirus recombinants (ΔE1+ΔE3) during multiple passages in 293 cells. Hum Gene Ther 1994; 5: 1485-1491.
46. Danko I, Fritz JD, Latendresse JS, Herweijer H, Schultz E, Wolff JA: Dystrophin expression improves myofiber survival in mdx muscle following intramuscular plasmid DNA injection. Hum Mol Genet 1993; 2: 2055-2061.
47. Huard J, et al.: Differential short-term transduction efficiency of adult versus newborn mouse tissues by adenoviral recombinants. Am J Pathol 1995; (submitted).
48. Greber UF, Willetts M, Webster P, Helenius A: Stepwise dismantling of adenovirus 2 during entry into cells. Cell 1993; 75: 477-486.
49. Crystal RG et al.: Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nature Genet 1994; 8: 42-51.
50. Morgan JE: Cell and gene therapy in Duchenne muscular dystrophy. Hum Gene Ther 1994; 5: 165-173.
51. Medical Research Council of Canada: Guidelines for research on somatic cell gene therapy in humans. Ottawa, Minister of Supply and Services Canada, 1990.
52. Proceed with care: Ottawa; Minister of Government Services, 1993; pp. 921-945.