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Operative Techniques in Orthopaedics
Volume 20, Issue 2
, Pages 136-143
, June 2010
Gene Therapy and Muscles: The Use of Adeno-associated Virus—Where are We Today?
References
- . Adenovirus-associated defective virus particles. Science. 1965;149:754–756
- Cloning of infectious adeno-associated virus genomes in bacterial plasmids. Gene. 1983;23:65–73
- Cloning of adeno-associated virus into pBR322: Rescue of intact virus from the recombinant plasmid in human cells. Proc Natl Acad Sci U S A. 1982;79:2077–2081
- . Nucleotide sequence and organization of the adeno-associated virus 2 genome. J Virol. 1983;45:555–564
- The atomic structure of adeno-associated virus (AAV-2), a vector for human gene therapy. Proc Natl Acad Sci U S A. 2002;99:10405–10410
- . Optimizing gene delivery vectors for the treatment of heart disease. Expert Opin Biol Ther. 2008;8:911–922
- Investigation of the cause of death in a gene-therapy trial. N Engl J Med. 2009;361:161–169
- Intracellular trafficking of adeno-associated viral vectors. Gene Ther. 2005;12:873–880
- . Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adeno-associated virus vector. J Virol. 1996;70:8098–8108
- Recombinant adeno-associated viral (rAAV) vectors as therapeutic tools for Duchenne muscular dystrophy (DMD). Gene Ther. 2004;11(suppl 1):S109–S121
- . Gene therapy strategies for Duchenne muscular dystrophy utilizing recombinant adeno-associated virus vectors. Mol Ther. 2006;13:241–249
- . Molecular pathophysiology and targeted therapeutics for muscular dystrophy. Trends Pharmacol Sci. 2001;22:465–470
- . Gene therapy in Duchenne muscular dystrophy. Brain Dev. 1996;18:357–361
- . Novel therapies for Duchenne muscular dystrophy. Lancet Neurol. 2003;2:299–310
- . The dystrophin-associated glycoprotein complex: What parts can you do without?. Proc Natl Acad Sci U S A. 2000;97:13464–13466
- . Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet. 2003;4:774–783
- Evidence of multiyear factor IX expression by AAV-mediated gene transfer to skeletal muscle in an individual with severe hemophilia B. Mol Ther. 2006;14:452–455
- Adeno-associated virus vector genomes persist as episomal chromatin in primate muscle. J Virol. 2008;82:7875–7885
- . Integration of adeno-associated virus (AAV) and recombinant AAV vectors. Annu Rev Genet. 2004;38:819–845
- A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med. 2003;348:255–256
- Genetic fate of recombinant adeno-associated virus vector genomes in muscle. J Virol. 2003;77:3495–3504
- Scalable serum-free production of recombinant adeno-associated virus type 2 by transfection of 293 suspension cells. J Virol Methods. 2007;144:32–40
- . Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus. J Virol. 1998;72:2224–2232
- Adenovirus-adeno-associated virus hybrid for large-scale recombinant adeno-associated virus production. Hum Gene Ther. 2009;20:922–929
- . Producing recombinant adeno-associated virus in foster cells: Overcoming production limitations using a baculovirus-insect cell expression strategy. Hum Gene Ther. 2009;20:807–817
- Scalable recombinant adeno-associated virus production using recombinant herpes simplex virus type 1 coinfection of suspension-adapted mammalian cells. Hum Gene Ther. 2009;20:861–870
- . Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies. Hum Gene Ther. 2009;20:796–806
- . Treatment of human disease by adeno-associated viral gene transfer. Hum Genet. 2006;119:571–603
- . Adeno-associated virus serotypes: Vector toolkit for human gene therapy. Mol Ther. 2006;14:316–327
- . New recombinant serotypes of AAV vectors. Curr Gene Ther. 2005;5:285–297
- Adeno-associated virus type 12 (AAV12): A novel AAV serotype with sialic acid- and heparan sulfate proteoglycan-independent transduction activity. J Virol. 2008;82:1399–1406
- Gene therapy for duchenne muscular dystrophy: Expectations and challenges. Arch Neurol. 2007;64:1236–1241
- Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci U S A. 2002;99:11854–11859
- Humoral immunity to adeno-associated virus type 2 vectors following administration to murine and nonhuman primate muscle. J Virol. 2000;74:2420–2425
- Immune responses to adeno-associated virus and its recombinant vectors. Gene Ther. 2003;10:964–976
- Successful transduction of liver in hemophilia by AAV-factor IX and limitations imposed by the host immune response. Nat Med. 2006;12:342–347
- . AAV hybrid serotypes: Improved vectors for gene delivery. Curr Gene Ther. 2005;5:299–310
- Sustained whole-body functional rescue in congestive heart failure and muscular dystrophy hamsters by systemic gene transfer. Circulation. 2005;112:2650–2659
- Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med. 2004;10:828–834
- Robust systemic transduction with AAV9 vectors in mice: Efficient global cardiac gene transfer superior to that of AAV8. Mol Ther. 2006;14:45–53
- Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo. Circ Res. 2006;99:e3–e9
- Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat Biotechnol. 2005;23:321–328
- Immunity to adeno-associated virus-mediated gene transfer in a random-bred canine model of Duchenne muscular dystrophy. Hum Gene Ther. 2007;18:18–26
- . Characterization of tissue tropism determinants of adeno-associated virus type 1. J Virol. 2003;77:2768–2774
- . Directed evolution of AAV mutants for enhanced gene delivery. Conf Proc IEEE Eng Med Biol Soc. 2004;5:3520–3523
- A muscle-targeting peptide displayed on AAV2 improves muscle tropism on systemic delivery. Gene Ther. 2009;16:953–962
- Next generation of adeno-associated virus 2 vectors: Point mutations in tyrosines lead to high-efficiency transduction at lower doses. Proc Natl Acad Sci U S A. 2008;105:7827–7832
- Comparison of transduction efficiency of tryosine-mutant AAV vectors in muscle. Mol Ther. 2009;17:S175
- Novel tryosine mutant vectors expand the utilities of AAV-mediated muscle gene therapy. Mol Ther. 2009;17:S176
- . The use of recombinant adeno-associated virus for skeletal gene therapy. Orthod Craniofac Res. 2007;10:1–14
- . 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
- A canine minidystrophin is functional and therapeutic in mdx mice. Gene Ther. 2008;15:1099–1106
- Intracellular viral processing, not single-stranded DNA accumulation, is crucial for recombinant adeno-associated virus transduction. J Virol. 2004;78:13678–13686
- . Gene therapy progress and prospects—Vectorology: Design and production of expression cassettes in AAV vectors. Gene Ther. 2006;13:805–813
- . Self-complementary recombinant adeno-associated virus (scAAV) vectors promote efficient transduction independently of DNA synthesis. Gene Ther. 2001;8:1248–1254
- Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo. Gene Ther. 2003;10:2105–2111
- Protein trans-splicing as a means for viral vector-mediated in vivo gene therapy. Hum Gene Ther. 2008;19:958–964
- A new dual-vector approach to enhance recombinant adeno-associated virus-mediated gene expression through intermolecular cis activation. Nat Med. 2000;6:595–598
- . Increasing the size of rAAV-mediated expression cassettes in vivo by intermolecular joining of two complementary vectors. Nat Biotechnol. 2000;18:527–532
- . Overcoming adeno-associated virus vector size limitation through viral DNA heterodimerization. Nat Med. 2000;6:599–602
- Inducible adeno-associated virus vectors promote functional angiogenesis in adult organisms via regulated vascular endothelial growth factor expression. Cardiovasc Res. 2009;83:663–671
- . New vectors and strategies for cardiovascular gene therapy. Curr Gene Ther. 2007;7:7–23
- . Gene therapy for Duchenne muscular dystrophy: AAV leads the way. Acta Myol. 2005;24:184–193
- Adeno-associated virus vector-mediated minidystrophin gene therapy improves dystrophic muscle contractile function in mdx mice. Hum Gene Ther. 2002;13:1451–1460
- rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat Med. 2006;12:787–789
- Systemic human minidystrophin gene transfer improves functions and life span of dystrophin and dystrophin/utrophin-deficient mice. J Orthop Res. 2009;27:421–426
- Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression. Mol Ther. 2007;15:1160–1166
- Direct intramuscular injection with recombinant AAV vectors results in sustained expression in a dog model of hemophilia. Gene Ther. 1998;5:40–49
- rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Gene Ther. 1999;6:74–82
- 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
- Gene therapy strategy for long-term myocardial protection using adeno-associated virus-mediated delivery of heme oxygenase gene. Circulation. 2002;105:602–607
- Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart. Circulation. 2003;108:1626–1632
- Gene delivery to the mammalian heart using AAV vectors. Methods Mol Biol. 2004;246:213–224
- Myocardial gene transfer and long-term expression following intracoronary delivery of adeno-associated virus. J Gene Med. 2005;7:316–324
- Wang B, Li J, Fu FH, et al: Systemic human minidystrophin gene transfer improves functions and life span of dystrophin and dystrophin/utrophin-deficient mice. J Orthop Res (in press)
- 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
- Immune evasion by muscle-specific gene expression in dystrophic muscle. Mol Ther. 2001;4:525–533
- Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product. Gene Ther. 2002;9:1576–1588
- . Interferon-gamma inhibits transgene expression driven by SV40 or CMV promoters but augments expression driven by the mammalian MHC I promoter. Hum Gene Ther. 1995;6:1291–1297
- Analysis of muscle creatine kinase gene regulatory elements in skeletal and cardiac muscles of transgenic mice. Mol Cell Biol. 1996;16:1649–1658
- The short MCK1350 promoter/enhancer allows for sufficient dystrophin expression in skeletal muscles of mdx mice. Biochem Biophys Res Commun. 2002;292:626–631
- E-box sites and a proximal regulatory region of the muscle creatine kinase gene differentially regulate expression in diverse skeletal muscles and cardiac muscle of transgenic mice. Mol Cell Biol. 1996;16:5058–5068
- Designing gene therapy vectors: Avoiding immune responses by using tissue-specific promoters. Gene Ther. 2001;8:1872–1878
- . Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice. J Biol Chem. 1993;268:719–725
- Overexpression of the cytosolic form of phosphoenolpyruvate carboxykinase (GTP) in skeletal muscle repatterns energy metabolism in the mouse. J Biol Chem. 2007;282:32844–32855
- Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice. Mol Ther. 2003;8:80–89
- Construction and analysis of compact muscle-specific promoters for AAV vectors. Gene Ther. 2008;15:1489–1499
- Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors. Mol Ther. 2000;2:16–25
- Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer. Mol Ther. 2000;1:119–129
- The muscle creatine kinase gene is regulated by multiple upstream elements, including a muscle-specific enhancer. Mol Cell Biol. 1988;8:62–70
- Design of tissue-specific regulatory cassettes for high-level rAAV-mediated expression in skeletal and cardiac muscle. Mol Ther. 2007;15:320–329
- Myogenic expression of an injectable protease-resistant growth hormone-releasing hormone augments long-term growth in pigs. Nat Biotechnol. 1999;17:1179–1183
- Synthetic muscle promoters: Activities exceeding naturally occurring regulatory sequences. Nat Biotechnol. 1999;17:241–245
- . The dystrophin-associated protein complex. J Cell Sci. 2002;115:2801–2803
- . The muscular dystrophies. Lancet. 2002;359:687–695
- Gene therapy for muscular dystrophy: Current progress and future prospects. Expert Opin Biol Ther. 2009;9:849–866
- Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain. J Cell Biol. 2000;150:1399–1410
- Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy. Nat Med. 2002;8:253–261
- Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury. Mol Ther. 2005;11:245–256
- 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
- Widespread muscle expression of an AAV-9 human mini-dystrophin construct after systemic intravenous injection in golden retriever muscular dystrophy (GRMD) neonatal dogs. Mol Ther. 2009;17:S152
- Hydrodynamic limb vein injection of AAV9 results in regional and systemic long-term expression of minidystrophin in young adult GRMD dogs. Mol Ther. 2009;17:S278
- . Therapy for neuromuscular disorders. Curr Opin Genet Dev. 2009;19:290–297
- . Exon-skipping therapy for Duchenne muscular dystrophy. Neuropathology. 2009;29:494–501
- Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science. 2004;306:1796–1799
- Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model. Proc Natl Acad Sci U S A. 2006;103:3758–3763
- . New therapies for Duchenne muscular dystrophy: Challenges, prospects and clinical trials. Trends Mol Med. 2007;13:520–526
- Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther. 2009;17:1234–1240
- Long-term benefit of adeno-associated virus/antisense-mediated exon skipping in dystrophic mice. Hum Gene Ther. 2008;19:601–608
- Sequence specificity of aminoglycoside-induced stop condon readthrough: Potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol. 2000;48:164–169
- Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007;357:2677–2686
- . Adeno-associated virus-based vectors in gene therapy. J Biomed Sci. 2000;7:279–291
The authors declare no conflicts of interest and have received no payment for the preparation of this manuscript.
PII: S1048-6666(09)00164-5
doi: 10.1053/j.oto.2009.10.011
© 2010 Elsevier Inc. All rights reserved.
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Operative Techniques in Orthopaedics
Volume 20, Issue 2
, Pages 136-143
, June 2010
