Challenges for gene therapy for muscular dystrophy

Current Neurology and Neuroscience Reports

Volumn 6, Issue 1, 2006, Pages 47-56

  Mendell, Jerry R ^a   Clark, K Reed ^b  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; DYSTROPHIN; INTERLEUKIN 2 RECEPTOR GAMMA; ORNITHINE CARBAMOYLTRANSFERASE; PARVOVIRUS VECTOR; RETROVIRUS VECTOR; SARCOGLYCAN;

CELLULAR IMMUNITY; CLINICAL TRIAL; DUCHENNE MUSCULAR DYSTROPHY; ENDOCYTOSIS; ENDOSOME; GENE CONVERSION; GENE REPLACEMENT THERAPY; GENE TRANSFER; GENE TRANSLOCATION; HUMAN; MOLECULAR MECHANICS; MULTIPLE ORGAN FAILURE; MUSCULAR DYSTROPHY; NONHUMAN; RESPIRATORY DISTRESS; REVIEW; SHOCK; SIGNAL TRANSDUCTION; SYSTEMATIC REVIEW; T CELL LEUKEMIA; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VIRUS ADSORPTION;

CLINICAL TRIALS; CYTOSKELETON; DEPENDOVIRUS; DYSTROPHIN; ENDOCYTOSIS; GENE THERAPY; HUMANS; IMMUNE SYSTEM; MUSCULAR DYSTROPHIES; MUTATION; TRANSDUCTION, GENETIC;

EID: 31544457858     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-996-0009-8     Document Type: Review

References (57)

1. Spencer MJ, Mellgren RL: Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology. Hum Mol Genet 2002, 11:2645-2655.
2. Shavlakadze T, White J, Hoh JF, et al.: Targeted expression of insulin-like growth factor-I reduces early myofiber necrosis in dystrophic mdx mice. Mol Ther 2004, 10:829-843.
3. Koenig M, Hoffman EP, Bertelson CJ, et al.: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987, 50:509-517.
4. Brown RH: Diseases of muscle. In Harrison's Principles of Internal Medicine. Edited by Kasper DL; New York: McGraw-Hill; 2005:2527-2540.
5. Collins CA, Morgan JE: Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies. Int J Exp Pathol 2003, 84:165-172.
6. Buzin CH, Feng J, Yan J, et al.: Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Hum Mutat 2005, 25:177-188.
7. Dent KM, Dunn DM, von Niederhausern AC, et al.: Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet 2005, 134:295-298.
8. Michele DE, Campbell KP: Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem 2003, 278:15457-15460.
9. Gao G, Alvira MR, Somanathan S, et al.: Adeno-associated viruses undergo substantial evolution in primates during natural infections. Proc Natl Acad Sci U S A 2003, 100:6081-6086.
10. O Gregorevic P, Blankinship MJ, Allen JM, et al.: Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Mad 2004, 10:828-834.
11. Wang Z, Zhu T, Qiao C, et al.: Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat Biotechnol 2005, 23:321-328.
12. Yan Z, Zhang Y, Duan D, et al.: Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy. Proc Natl Acad Sci U S A 2000, 97:6716-6721.
13. Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al.: LM02-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 2003, 302:415-419.
14. Dave UP, Jenkins NA, Copeland NG: Gene therapy insertional mutagenesis insights. Science 2004, 303:333.
15. Check E: Gene therapy put on hold as third child develops cancer. Nature 2005, 433:561.
16. Schnepp BC, Clark KR, Klemanski DL, et al.: Genetic fate of recombinant adeno-associated virus vector genomes in muscle. J Virol 2003, 77:3495-3504.
17. England SB, Nicholson LV, Johnson MA, et al.: Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990, 343:180-182.
18. Phelps SF, Hauser MA, Cole NM, et al.: Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 1995, 4:1251-1258.
19. Rafael JA, Cox GA, Corrado K, et al.: Forced expression of dystrophin deletion constructs reveals structure-function correlations. J Cell Biol 1996, 134:93-102.
20. Corrado K, Rafael JA, Mills PL, et al.: Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype. J Cell Biol 1996, 134:873-884.
21. Crawford GE, Faulkner JA, Crosbie RH, et al.: Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain. J Cell Biol 2000, 150:1399-1410.
22. 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.
23. 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, 97:13714-13719.
24. Cox GA, Cole NM, Matsumura K, et al.: Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 1993, 364:725-729.
25. Chamberlain JS: Dystorphin levels required for genetic correction of Duchenne muscular dystrophy. Basic Appl Myol 1997, 7:251-255.
26. Hauser MA, Chamberlain JS: Progress towards gene therapy for Duchenne muscular dystrophy. J Endocrinol 1996, 149:373-378.
27. Yue Y, Li Z, Harper SQ, et al.: Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart. Circulation 2003, 108:1626-1632.
28. Mendell JR, Moore SA, et al.: Gene transfer clinical trial for limb-girdle muscular dystrophy type 2D, alpha-sarcoglycan deficiency. Neurology 2002, 58:A169.
29. 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.
30. Verma IM: A tumultuous year for gene therapy. Mol Ther 2000, 2:415-416.
31. Arruda VR, Stedman HH, Nichols TC, et al.: Regional intravascular delivery of AAV-2-F.IX to skeletal muscle achieves long-term correction of hemophilia B in a large animal model. Blood 2005, 105:3458-3464.
32. Ding W, Zhang L, Yan Z, et al.: Intracellular trafficking of adeno-associated viral vectors. Gene Ther 2005, 12:873-880.
33. 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.
34. Di Pasquale G, Davidson BL, Stein CS, et al.: Identification of PDGFR as a receptor for AAV-5 transduction. Nat Med 2003, 9:1306-1312.
35. Rabinowitz JE, Bowles DE, Faust SM, et al.: Cross-dressing the virion: the transcapsidation of adeno-associated virus serotypes functionally defines subgroups. J Virol 2004, 78:4421-4432.
36. Bowles DE, Rabinowitz JE, Samulski RJ: Marker rescue of adeno-associated virus (AAV) capsid mutants: a novel approach for chimeric AAV production. J Virol 2003, 77:423-432.
37. Seisenberger G, Ried MU, Endress T, et al.: Real-time single-molecule imaging of the infection pathway of an adeno-associated virus. Science 2001, 294:1929-1932.
38. Bartlett JS, Wilcher R, Samulski RJ: Infectious entry pathway of adeno-associated virus and adeno-associated virus vectors. J Virol 2000, 74:2777-2785.
39. Bantel-Schaal U, Hub B, Kartenbeck J: Endocytosis of adeno-associated virus type 5 leads to accumulation of virus particles in the Golgi compartment. J Virol 2002, 76:2340-2349.
40. Ferrari FK, Samulski T, Shenk T, et al.: Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors. J Virol 1996, 70:3227-3234.
41. McCarty DM, Fu H, Monahan PE, et al.: Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo. Gene Ther 2003, 10:2112-2118.
42. Zaiss AK, Liu Q, Bowen GP, et al.: Differential activation of innate immune responses by adenovirus and adeno-associated virus vectors. J Virol 2002, 76:4580-4590.
43. 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.
44. Xiao X, Li J, Samulski RJ: Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adeno-associated virus vector. J Virol 1996, 70:8098-8108.
45. 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.
46. Zhang Y, Chirmule N, Gao G, et al.: CD40 ligand-dependent activation of cytotoxic T lymphocytes by adeno-associated virus vectors in vivo: role of immature dendritic cells. J Virol 2000, 74:8003-8010.
47. Cordier L, Gao GP, Hack AA, et al.: Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies. Hum Gene Ther 2001, 12:205-215.
48. Brockstedt DG, Podsakoff GM, Fong L, et al.: Induction of immunity to antigens expressed by recombinant adeno-associated virus depends on the route of administration. Clin Immunol 1999, 92:67-75.
49. Manning WC, Paliard X, Zhou S, et al.: Genetic immunization with adeno-associated virus vectors expressing herpes simplex virus type 2 glycoproteins B and D. J Virol 1997, 71:7960-7962.
50. Johnson PR, Schnepp BC, Connell MJ, et al.: Novel adeno-associated virus vector vaccine restricts replication of simian immunodeficiency virus in macaques. J Virol 2005, 79:955-965.
51. Gao G, Lebherz C, Weiner DJ, et al.: Erythropoietin gene therapy leads to autoimmune anemia in macaques. Blood 2004, 103:3300-3302.
52. 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.
53. Sarukhan A, Soudais C, Danos O, et al.: Factors influencing cross-presentation of non-self antigens expressed from recombinant adeno-associated virus vectors. J Gene Med 2001, 3:260-270.
54. Hartigan-O'Connor D, Kirk CJ, Crawford R, et al.: Immune evasion by muscle-specific gene expression inn dystrophic muscle. Mol Ther 2001, 4:525-533.
55. Tinsley J, Deconinck N, Fisher R, et al.: Expression of full-length utrophin prevents muscular dystrophy in mdx mice. Nat Med 1998, 4:1441-1444.
56. Bogdanovich S, Krag TO, Barton ER, et al.: Functional improvement of dystrophic muscle by myostatin blockade. Nature 2002, 420:418-421.
57. 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.