Gene transfer into skeletal muscle using novel AAV serotypes

Journal of Gene Medicine

Volumn 7, Issue 4, 2005, Pages 442-451

  Louboutin, Jean Pierre ^a   Wang, Lili ^a   Wilson, James M ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b WISTAR INSTITUTE   (United States)

Author keywords

galactosidase; Adeno associated virus (AAV); Gene therapy; Gene transfer; Muscular dystrophies; Skeletal muscle

Indexed keywords

MYOSIN HEAVY CHAIN; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FAST MUSCLE FIBER; GASTROCNEMIUS MUSCLE; GENE EXPRESSION; GENE TRANSFER; GENETIC TRANSDUCTION; IMMUNOCOMPETENCE; INFLAMMATION; MALE; MOUSE; MOUSE STRAIN; NONHUMAN; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEROTYPE; SLOW MUSCLE FIBER; SOLEUS MUSCLE; TRANSGENE; VIRAL GENE DELIVERY SYSTEM;

ANIMALS; DEPENDOVIRUS; GENE EXPRESSION; GENE TRANSFER TECHNIQUES; MALE; MICE; MICE, INBRED C57BL; MUSCLE, SKELETAL; TRANSGENES;

ADENO-ASSOCIATED VIRUS; ANIMALIA; MACACA MULATTA;

EID: 17544383607     PISSN: 1099498X     EISSN: None     Source Type: Journal    
DOI: 10.1002/jgm.686     Document Type: Article

References (56)

1. Ragot T, Vincent N, Chafey P, et al. Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice. Nature 1993; 361: 647-650.
2. Acsadi G, Lochmuller H, Jani A, et al. Dystrophin expression in muscles of mdx mice after adenovirus-mediated in vivo gene transfer. Hum Gene Ther 1996; 7: 129-140.
3. Louboutin JP, Rouger K, Tinsley JM, et al. iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin. Mol Med 2001; 7: 355-564.
4. Dai Y, Schwarz EM, Gu D, et al. 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 U S A 1995; 92: 1401-1405.
5. Tripathy SK, Goldwasser E, Lu MM, et al. Stable delivery of physiologic levels of recombinant erythropoietin to the systemic circulation by intramuscular injection of replication-defective adenovirus. Proc Natl Acad Sci U S A 1994; 91: 11 557-11 561.
6. Svensson EC, Black HB, Dogger DL, et al. Long-term erythropoietin expression in rodents and non-human primates following intramuscular injection of a replication-defective adenoviral vector. Hum Gene Ther 1997; 8: 1797-1806.
7. Schnell MA, Zhang Y, Tazelaar J, et al. Activation of innate immunity in nonhuman primates following intraportal administration of adenoviral vectors. Mol Ther 2001; 3: 708-722.
8. Gilbert R, Liu A, Petrof B, et al. Improved performance of a fully gutted adenovirus vector containing two full-length dystrophin cdnas regulated by a strong promoter. Mol Ther 2002; 6: 501-509.
9. Haecker SE, Stedman HH, Balice-Gordon RJ, et al. In vivo expression of full-length human dystrophin from adenoviral vectors deleted of all viral genes. Hum Gene Ther 1996; 7: 1907-1914.
10. Yang Y, Haecker SE, Su Q, et al. Immunology of gene therapy with adenoviral vectors in mouse skeletal muscle. Hum Mol Genet 1996; 5: 1703-1712.
11. Hildinger M, Auricchio A, Gao G, et al. Hybrid vectors based on adeno-associated virus serotypes 2 and 5 for muscle-directed gene transfer. J Virol 2001; 75: 6199-6203.
12. Passini MA, Wolfe JH. Widespread gene delivery and structure-specific patterns of expression in the brain after intraventricular injections of neonatal mice with an adeno-associated virus vector. J Virol 2001; 75: 12 382-12 392.
13. Auricchio A, Kobinger G, Anand V, et al. Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model. Hum Mol Genet 2001; 10: 3075-3081.
14. Melo LG, Agrawal R, Zhang L, et al. Gene therapy strategy for long-term myocardial protection using adeno-associated virus-mediated delivery of heme oxygenase gene. Circulation 2002; 105: 602-607.
15. Kessler PD, Podsakoff GM, Chen X, et al. Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein. Proc Natl Acad Sci U S A 1996; 93: 14082-14087.
16. Auricchio A, O'Connor E, Weiner D, et al. Noninvasive gene transfer to the lung for systemic delivery of therapeutic proteins. J Clin Invest 2002; 110: 499-504.
17. Manno CS, Chew AJ, Hutchison S, et al. AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. Blood 2003; 101: 2963-2972.
18. Jooss K, Yang Y, Fisher KJ, et al. Transduction of dendritic cells by DNA viral vectors directs the immune response to transgene products in muscle fibers. J Virol 1998; 72: 4212-4223.
19. Greelish JP, Su LT, Lankford EB, et al. Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector. Nat Med 1999; 5: 439-443.
20. Xiao X, Li J, Tsao YP, et al. Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy. J Virol 2000; 74: 1436-1442.
21. Cordier L, Hack AA, Scott MO, et al. Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer. Mol Ther 2000; 1: 119-129.
22. Stedman H, Wilson JM, Finke R, et al. Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. Hum Gene Ther 2000; 11: 777-790.
23. Herzog RW, Hagstrom JN, Kung SH, et al. Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus. Proc Natl Acad Sci U S A 1997; 94: 5804-5809.
24. Gao GP, Alvira MR, Wang L, et al. Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci U S A 2002; 99: 11 854-11 859.
25. Xiao X, Li J, Samulski RJ. Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus. J Virol 1998; 72: 2224-2232.
26. Kobinger GP, Louboutin JP, Barton ER, et al. Correction of the dystrophic phenotype by in vivo targeting of muscle progenitor cells. Hum Gene Ther 2003; 14: 1441-1449.
27. Summerford C, Samulski RJ. Membrane-associated heparan sulfate proteoglycan is a receptor for adeno-associated virus type 2 virions. J Virol 1998; 72: 1438-1445.
28. Xiao W, Chirmule N, Berta SC, et al. Gene therapy vectors based on adeno-associated virus type 1. J Virol 1999; 73 3994-4003.
29. Chao H, Monahan PE, Liu Y, et al. Sustained and complete phenotype correction of hemophilia B mice following intramuscular injection of AAV1 serotype vectors. Mol Ther 2001; 4: 217-222.
30. Tezak Z, Nagaraju K, Plotz P, et al. Adeno-associated virus in normal and myositis human skeletal muscle. Neurology 2000; 55: 1913-1917.
31. Fisher KJ, Jooss K, Alston J, et al. Recombinant adeno-associated virus for muscle directed gene therapy. Nat Med 1997; 3: 306-312.
32. Snyder RO, Spratt SK, Lagarde C, et al. Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice. Hum Gene Ther 1997; 8: 1891-1900.
33. Clark KR, Sferra TJ, Johnson PR. Recombinant adeno-associated viral vectors mediate long-term transgene expression in muscle. Hum Gene Ther 1997; 8: 659-669.
34. Pruchnic R, Cao B, Peterson ZQ, et al. The use of adeno-associated virus to circumvent the maturation-dependent viral transduction of muscle fibers. Hum Gene Ther 2000; 11: 521-536.
35. Qing K, Mah C, Hansen J, et al. Human fibroblast growth factor receptor 1 is a co-receptor for infection by adeno-associated virus 2. Nat Med 1999; 5: 71-77.
36. Summerford C, Bartlett JS, Samulski RJ. Alphavbeta5 integrin: A co-receptor for adeno-associated virus type 2 infection. Nat Med 1999; 5: 78-82.
37. Gulati AK, Reddi AH, Zalewski AA. Changes in the basement membrane zone components during skeletal muscle fiber degeneration and regeneration. J Cell Biol 1983; 97: 957-962.
38. Brandan E, Inestrosa NC. Isolation of the heparan sulfate proteoglycans from the extracellular matrix of rat skeletal muscle. J Neurobiol 1987; 18: 271-282.
39. Carpenter S, Karpati G. Pathology of Skeletal Muscle, Oxford University Press: Oxford, 2001; 49-50.
40. Acosta L Jr, Roy RR. Fiber-type composition of selected hindlimb muscles of a primate (cynomolgus monkey). Anat Rec 1987; 218: 136-141.
41. Dressman D, Araishi K, Imamura M, et al. Delivery of alpha- and beta-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity. Hum Gene Ther 2002; 13: 1631-1646.
42. Harper SQ, Hauser MA, DelloRusso C, et al. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med 2002; 8: 253-261.
43. Fabb SA, Wells DJ, Serpente P, et al. Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx mice. Hum Mol Genet 2002; 11: 733-741.
44. Wang B, Li J, Xiao X. Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc Natl Acad Sci U S A 2000; 97: 13 714-13 719.
45. Song S, Morgan M, Ellis T, et al. Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc Natl Acad Sci U S A 1998; 95: 14 384-14 388.
46. Arruda VR, Schuettrumpf J, Herzog RW, et al. Safety and efficacy of factor IX gene transfer to skeletal muscle in murine and canine hemophilia B models by adeno-associated viral vector serotype 1. Blood 2004; 103: 85-92.
47. Sarukhan A, Camugli S, Gjata B, et al. Successful interference with cellular immune responses to immunogenic proteins encoded by recombinant viral vectors. J Virol 2001; 75: 269-277.
48. Wang L, Louboutin JP, Nichols TC, et al. Novel pseudotype of AAV vectors for hemophilia B gene therapy. Mol Ther 2004; 5: S161.
49. Martz H, Heagy W, Gromsowski SH. The mechanism of CTL-mediated killing: monoclonal antibody analysis of the roles of killer and target-cell membrane proteins. Immunol Rev 1983; 72: 73-96.
50. Karpati G, Pouliot Y, Carpenter S. Expression of immunoreactive major histocompatibility complex products in human skeletal muscles. Ann Neurol 1988; 23: 64-72.
51. Arahata K, Engel AG. Monoclonal antibody analysis of mononuclear cells in myopathies. I. Quantification of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells. Ann Neurol 1984; 16: 193-208.
52. Englund P, Lindroos E, Nennesmo I, Klareskog L, Lundberg IE. Skeletal muscle fibers express major histocompatibility complex class II antigens independently of inflammatory infiltrates in inflammatory myopathies. Am J Pathol 2001; 159: 1263-1273.
53. Nagaraju K, Raben N, Loeffler L, et al. Conditional up-regulation of MHC class I in skeletal muscle leads to self-sustaining autoimmune myositis and myositis-specific autoantibodies. Proc Natl Acad Sci U S A 2000; 97: 9209-9214.
54. Englund P, Nennesmo I, Klareskog L, Lundberg IE. Interleukin-1alpha expression in capillaries and major histocompatibility complex class I expression in type II muscle fibers from polymyositis and dermatomyositis patients: important pathogenic features independent of inflammatory cells clusters in muscle tissue. Arthritis Rheum 2002; 46: 1044-1055.
55. Lundberg IE, Dastmalchi M. Possible pathogenic mechanisms in inflammatory myopathies. Rheum Dis Clin North Am 2002; 28: 799-822.
56. Hiscock N, Chan MHS, Bisucci T, Darby IA, Febbraio MA. Skeletal myocytes are a source of interleukin-6 mRNA expression and protein release during contraction: evidence of fiber type specificity. FASEB J 2004; 18: 992-994.