Progress toward gene therapy of Duchenne muscular dystrophy

Seminars in Neurology

Volumn 19, Issue 3, 1999, Pages 323-332

  Hartigan O'connor, Dennis ^a,c   Chamberlain, Jeffrey S ^a,b,c  

^a Department of Human Genetics ^*  (United States)

^b Program in Cell and Molecular Biology   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Adenovirus; Duchenne; Dystrophin; Gene therapy; Gutless; Gutted; Helper dependent; Vector

Indexed keywords

DYSTROPHIN; VIRUS VECTOR;

ADENOVIRUS; ARTICLE; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; GENE INDUCTION; GENE REPRESSION; GENE TARGETING; GENE THERAPY; HEART MUSCLE CELL; PRIORITY JOURNAL; SKELETAL MUSCLE; TRANSGENIC MOUSE; VIRUS REPLICATION; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 0032729844     PISSN: 02718235     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1040848     Document Type: Article

References (75)

1. Amalfitano A, Rafael JA, Chamberlain JS. Structure and mutation of the dystrophin gene. In: Amalfitano A, Rafael JA, Chamberlain JS, (eds.) Secondary Structure and Mutation of the Dystrophin Gene. Cambridge: Cambridge University Press, 1997: 1-26
2. Cox GA, Cole NM, Matsumura K, Phelps SF, Hauschka SD, Campbell KP, et al. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity [see comments]. Nature 1993;364:725-729
3. Im WB, Phelps SF, Copen EH, Adams EG, Slightom JL, Chamberlain JS. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum Mol Genet 1996;5:1149-1153
4. Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ. The molecular basis of muscular dystrophy in the mdx mouse: A point mutation. Science 1989;244:1578-1580
5. Emery AEH. Duchenne Muscular Dystrophy. New York: Oxford University Press, 1993
6. Cohen HJ, Molnar GE, Taft LT. The genetic relationship of progressive muscular dystrophy (Duchenne type) and mental retardation. Dev Med Child Neurol 1968;10:754-765
7. Leibowitz D, Dubowitz V. Intellect and behaviour in Duchenne muscular dystrophy. Dev Med Child Neurol 1981;23:577-590
8. Bresolin N. Castelli E. Corni GP, Felisari G, Bardoni A, Perani D, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromusc Disord 1994;4:359-369
9. Lenk U, Hanke R, Thiele H, Speer A. Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients. Hum Mol Genet 1993;2:1877-1881
10. Jacobs PA, Hunt PA, Mayer M, Bart RD. Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: Further evidence that the DMD locus is at Xp21. Am J Hum Genet 1981;33:513-518
11. Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci USA 1985;82:4778-4782
12. Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT. Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 1979;16:389-392
13. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986;323:646-650
14. Ray PN, Beifall B, Duff, Logan C, Kean V, Thompson MW, et al. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 1985;318:672-675
15. Zatz M, Vianna-Morgante AM, Campos P, Diament AJ. Translocation (X;6) in a female with Duchenne muscular dystrophy: Implications for the localisation of the DMD locus. J Med Genet 1981;18:442-447
16. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophinassociated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992;355:696-702
17. Kamakura K, Tadano Y, Kawai M, Ishiura S, Nakamura R, Miyamoto K, et al. Dystrophin-related protein is found in the central nervous system of mice at various developmental stages, especially at the postsynaptic membrane. J Neurosci Res 1994;37:728-734
18. Lidov HG, Byers TJ, Watkins SC, Kunkel LM. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 1990;348:725-728
19. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 1989;45:498-506
20. Monaco AP, Bertelson CJ. Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-95
21. Tinsley J, Deconinck N, Fisher R, Kahn D, Phelps S, Gillis JM, et al. Expression of full-leigth utrophin prevents muscular dystrophy in mdx mice. Nature Med 1998;4:1441-1444
22. Helliwell TR, Man NT, Morris GE, Davies KE. The dystrophin-related protein, utrophin, is expressed on the sarcolemma of regenerating human skeletal muscle fibres in dystrophies and inflammatory myopathies. Neuromuscular Dis 1992;2:177-184
23. Helliwell TR, Nguyen TM, Morris GE. Expression of the 43 kDa dystrophin-associated glycoprotein in human neuromuscular disease. Neuromusc Dis 1994;4:101-113
24. Phelps SF, Hauser MA, Cole NM, Rafael JA, Hinkle RT, Faulkner JA, et al. Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 1995;4:1251-1258
25. Rafael JA, Sunada Y, Cole NM, Campbell KP, Faulkner JA, Chamberlain JS. Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform. Hum Mol Genet 1994;3:1725-1733
26. Morgan JE, Pagel CN, Sherratt T, Partridge TA. Long-term persistence and migration of myogenic cells injected into pre-irradiated muscles of mdx mice. J Neurol Sci 1993;115:191-200
27. Huard J, Goins WF, Glorioso JC. Herpes simplex virus type 1 vector mediated gene transfer to muscle. Gene Ther 1995;2: 385-392
28. Rafael JA, Cox GA, Corrado K, Jung D, Campbell KP, Chamberlain JS. Forced expression of dystrophin deletion constructs reveals structure-function correlations. J Cell Biol 1996;134:93-102
29. England SB, Nicholson LV, Johnson MA, Forrest SM, Love DR, Zubrzycka-Gaarn EE, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990; 343:180-182
30. Rowe WP, Huebner RJ, Gillmore LK, Parrott RH, Ward TG. Isolation of a cytogenic agent from human adenoids undergoing spontaneous degeneration in tissue culture. Proc Soc Exp Biol Med 1953;84:570
31. Brandt CD, Kim HW, Vargosko AJ, Jeffries BC, Arrobio JO, Rindge B, et al. Infections in 18,000 infants and children in a controlled study of respiratory tract disease, I. Adenovirus pathogenicity in relation to serologic type and illness syndrome. Am J Epidemiol 1969;90:484-500
32. Schmitz H, Wigand R, Heinrich W. Worldwide epidemiology of human adenovirus infections. Am J Epidemiol 1983;117: 455-466
33. Wishart PK, James C, Wishart MS, Darougar S. Prevalence of acute conjunctivitis caused by chlamydia, adenovirus, and herpes simplex virus in an ophthalmic casualty department. Br J Ophthalmol 1984;68:653-655
34. Berget SM, Moore C, Sharp PA. Spliced segments at the 5′ terminus of adenovirus 2 late mRNA. Proc Natl Acad Sci USA 1977;74:3171-3175
35. Chow LT, Gelinas RE, Broker TR, Roberts RJ. An amazing sequence arrangement at the 5′ ends of adenovirus 2 messenger RNA. Cell 1977;12:1-8
36. Bergelson JM, Cunningham JA, Droguett G, Kurt-Jones EA, Krithivas A, Hong JS, et al. Isolation of a common receptor for Coxsackie B viruses and adenoviruses 2 and 5. Science 1997;275:1320-1323
37. Wickham TJ, Mathias P, Cheresh DA, Nemerow GR. Integrins alpha v beta 3 and alpha v beta 5 promote adenovirus internalization but not virus attachment. Cell 1993;73:309-319
38. Jooss K, Ertl HC, Wilson JM. Cytotoxic T-lymphocyte target proteins and their major histocompatibility complex class I restriction in response to adenovirus vectors delivered to mouse liver. J Virol 1998;72:2945-2954
39. Thomas GP, Mathews MB. DNA replication and the early to late transition in adenovirus infection. Cell 1980;22:523-533
40. Gaynor RB, Berk AJ. Cis-acting induction of adenovirus transcription. Cell 1983;33:683-693
41. Nevins JR. Mechanism of activation of early viral transcription by the adenovirus E1A gene product. Cell 1981;26:213-220
42. Yang Y, Su Q, Wilson JM. Role of viral antigens in destructive cellular immune responses to adenovirus vector-transduced cells in mouse lungs. J Virol 1996;70:7209-7212
43. Deconinck N, Ragot T, Marechal G, Perricaudent M, Gillis JM. Functional protection of dystrophic mouse (mdx) muscles after adenovirus-mediated transfer of a dystrophin minigene. Proc Natl Acad Sci USA 1996;93:3570-3574
44. Vincent N, Ragot T, Gilgenkrantz H, Couton D, Chafey P, Gregoire A, et al. Long-term correction of mouse dystrophic degeneration by adenovirus-mediated transfer of a minidystrophin gene. Nature Genet 1993;5:130-134
45. Acsadi G, Jani A, Massie B, Simoneau M, Holland P, Blaschuk K, et al. A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity. Hum Mol Genet 1994;3:579-584
46. Lochmuller H, Petrof BJ, Pari G, Larochelle N, Dodelet V, Wang Q, et al. Transient immunosuppression by FK506 permits a sustained high-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscles of adult dystrophic (mdx) mice. Gene Ther 1996;3:706-716
47. Yang L, Lochmuller H, Luo J, Massie B, Nalbantoglu J, Karpati G, et al. Adenovirus-mediated dystrophin minigene transfer improves muscle strength in adult dystrophic (MDX) mice. Gene Ther 1998;5:369-379
48. Dai Y, Schwarz EM, Gu D, Zhang WW, Sarvetnick N, Verma IM. Cellular and humoral immune responses to adenoviral vectors containing factor IX gene: Tolerization of factor IX and vector antigens allows for long-term expression. Proc Natl Acad Sci USA 1995;92:1401-1405
49. Dong JY, Wang D, Van Ginkel FW, Pascual DW, Frizzell RA. Systematic analysis of repeated gene delivery into animal lungs with a recombinant adenovirus vector. Hum Gene Ther 1996;7:319-331
50. Van Ginkel FW, Liu C, Simecka JW, Dong JY, Greenway T, Frizzell RA, et al. Intratracheal gene delivery with adenoviral vector induces elevated systemic IgG and mucosal IgA antibodies to adenovirus and beta-galactosidase. Hum Gene Ther 1995;6:895-903
51. Yang Y, Nunes FA, Berencsi K, Furth EE, Gonczol E, Wilson JM. Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc Nat Acad Sci USA 1994;91: 4407-4411
52. Yang Y, Wilson JM. Clearance of adenovirus-infected hepatocytes by MHC class I-restricted CD4+ CTLs in vivo. J Immunol 1995;155:2564-2570
53. Zsengeller ZK, Wert SE, Hull WM, Hu X, Yei S, Trapnell BC, et al. Persistence of replication-deficient adenovirus-mediated gene transfer in lungs of immune-deficient (nu/nu) mice. Hum Gene Ther 1995;6:457-467
54. Amalfitano A, Hauser MA, Hu H, Serra D, Begy CR, Chamberlain JS. Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deleted. J Virol 1998;72:926-933
55. Armentano D, Sookdeo CC, Hehir KM, Gregory RJ, St. George JA, Prince GA, et al. Characterization of an adenovirus gene transfer vector containing an E4 deletion. Hum Gene Ther 1995;6:1343-1353
56. Gorziglia MI, Kadan MJ, Yei S, Lim J, Lee GM, Luthra R, et al. Elimination of both E1 and E2 from adenovirus vectors further improves prospects for in vivo human gene therapy. J Virol 1996;70:4173-4178
57. Schaack J, Guo X, Ho WY, Karlok M, Chen C, Ornelles D. Adenovirus type 5 precursor terminal protein-expressing 293 and HeLa cell lines. J Virol 1995;69:4079-4085
58. Wang Q, Jia XC, Finer MH. A packaging cell line for propagation of recombinant adenovirus vectors containing two lethal generegion deletions. Gene Ther 1995;2:775-783
59. Weinberg DH, Ketner G. A cell line that supports the growth of a defective early region 4 deletion mutant of human adenovirus type 2. Proc Natl Acad Sci USA 1983;80:5383-5386
60. Zhou H, O'Neal W, Morral N, Beaudet AL. Development of a complementing cell line and a system for construction of adenovirus vectors with E1 and E2a deleted. J Virol 1996;70:7030-7038
61. Gao GP, Yang Y, Wilson JM. Biology of adenovirus vectors with E1 and E4 deletions for liver-directed gene therapy. J Virol 1996;70:8934-8943
62. Hu H, Serra D, Amalfitano A. Persistence of an [E1-, polymerase-] adenovirus vector despite transduction of a neoantigen into immune-competent mice. Hum Gene Ther 1999;10:355-364
63. O'Neal WK, Zhou H, Morral N, Aguilar-Cordova E, Pestaner J, Langston C, et al. Toxicological comparison of E2a-deleted and first-generation adenoviral vectors expressing alpha1-antitrypsin after systemic delivery. Hum Gene Ther 1998;9:1587-1598
64. Wang Q, Greenburg G, Bunch D, Parson D, Finer MH. Persistent transgene expression in mouse liver following in vivo gene transfer with a delta E1/elta E4 adenovirus vector. Gene Ther 1997;4:393-400
65. Solnick D. Construction of an adenovirus-SV40 recombinant producing SV40 T antigen from an adenovirus late promoter. Cell 1981;24:135-143
66. Thummel C, Tjian R, Grodzicker T. Expression of SV40 T antigen under control of adenovirus promoters. Cell 1981;23:825-836
67. Hardy S, Kitamura M, Harris-Stansil T, Dai Y, Phipps ML. Construction of adenovirus vectors through Cre-lox recombination. J Virol 1997;71:1842-1849
68. Parks RJ, Chen L, Anton M, Sankar U, Rudnicki MA, Graham FL. A helper-dependent adenovirus vector system: Removal of helper virus by Cre-mediated excision of the viral packaging signal. Proc Natl Acad Sci USA 1996;93:13565-13570
69. Fisher KJ, Choi H, Burda J, Chen SJ, Wilson JM. Recombinant adenovirus deleted of all viral genes for gene therapy of cystic fibrosis. Virology 1996;217:11-22
70. Kochanek S, Clemens PR, Mitani K, Chen HH, Chan S, Caskey CT. A new adenoviral vector: Replacement of all viral coding sequences with 28 kb of DNA independently expressing both full-length dystrophin and beta-galactosidase. Proc Natl Acad Sci USA 1996;93:5731-5736
71. Kumar-Singh R, Chamberlain JS. Encapsidated adenovirus minichromosomes allow delivery and expression of a 14 kb dystrophin cDNA to muscle cells. Hum Mol Gen 1996;5:913-921
72. Tripathy SK, Black HB, Goldwasser E, Leiden JM. Immune responses to transgene-encoded proteins limit the stability of gene expression after injection of replication-defective adenovirus vectors. Nature Med 1996;2:545-550
73. Yang Y, Haecker SE, Su Q, Wilson JM. Immunology of gene therapy with adenoviral vectors in mouse skeletal muscle. Hum Mol Genet 1996;5:1703-1712
74. Greelish JP, Su LT, Lankford EB, Burkman JM, Chen H, Konig SK, et al. Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector. Nature Med 1999;5:439-443
75. Wickham TJ, Tzeng E, Shears LL 2nd, Roelvink PW, Li Y, Lee GM, et al. Increased in vitro and in vivo gene transfer by adenovirus vectors containing chimeric fiber proteins. J Virol 1997; 71:8221-8229