AAV. Dysferlin overlap vectors restore function in dysferlinopathy animal models

Annals of Clinical and Translational Neurology

Volumn 2, Issue 3, 2015, Pages 256-270

  Sondergaard, Patricia C ^a   Griffin, Danielle A ^a   Pozsgai, Eric R ^a,b   Johnson, Ryan W ^a   Grose, William E ^a   Heller, Kristin N ^a   Shontz, Kim M ^a   Montgomery, Chrystal L ^a   Liu, Joseph ^a   Clark, Kelly Reed ^a,b   Sahenk, Zarife ^a,b   Mendell, Jerry R ^a,b   Rodino Klapac, Louise R ^a,b  

^a NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DYSFERLIN; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DYSFERLINOPATHY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME LINKED IMMUNOSPOT ASSAY; GENE CONSTRUCT; HISTOLOGY; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IN VIVO GENE TRANSFER; MORPHOMETRICS; MOUSE; MUSCLE TETANIC CONTRACTION; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; TISSUE REPAIR; WESTERN BLOTTING;

EID: 85017702957     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.172     Document Type: Article

References (56)

1. Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20:37-42.
2. Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36.
3. Illa I, Serrano-Munuera C, Gallardo E, et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001;49:130-134.
4. Rosales XQ, Gastier-Foster JM, Lewis S, et al. Novel diagnostic features of dysferlinopathies. Muscle Nerve 2010;42:14-21.
5. Seror P, Krahn M, Laforet P, et al. Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. Muscle Nerve 2008;37:410-414.
6. Nagashima F, Chuma T, Mano Y, et al. Dysferlinopathy associated with rigid spine syndrome. Neuropathology 2004;24:341-346.
7. Urtizberea JA, Bassez G, Leturcq F, et al. Dysferlinopathies. Neurol India 2008;56:289-297.
8. Kobayashi K, Izawa T, Kuwamura M, Yamate J. Dysferlin and animal models for dysferlinopathy. J Toxicol Pathol 2012;25:135-147.
9. Klinge L, Dean A, Kress W, et al. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord 2008;18:288-290.
10. Nguyen K, Bassez G, Krahn M, et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007;64:1176-1182.
11. Walter M, Reilich P, Thiele S, et al. Treatment of dysferlinopathy with deflazacort: a double-blind, placebocontrolled clinical trial. Orphanet J Rare Dis 2013;8:26.
12. Angelini C, Peterle E, Gaiani A, et al. Dysferlinopathy course and sportive activity: clues for possible treatment. Acta Myol 2011;30:127-132.
13. Lerario A, Cogiamanian F, Marchesi C, et al. Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy. BMC Musculoskelet Disord 2010;11:1-7.
14. Aoki M, Liu J, Richard I, et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 2001;57:271-278.
15. Liu J, Wu C, Bossie K, et al. Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 1998;49:23-29.
16. Grose WE, Clark KR, Griffin D, et al. Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer. PLoS One 2012;7: e39233.
17. Lek A, Lek M, North K, Cooper S. Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evol Biol 2010;10:231.
18. Abdullah N, Padmanarayana M, Marty N, Johnson C. Quantitation of the calcium and membrane binding properties of the C2 domains of dysferlin. Biophys J 2014;106:382-389.
19. Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168-172.
20. Lennon NJ, Kho A, Bacskai BJ, et al. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 2003;278:50466-50473.
21. Lek A, Evesson F, Sutton B, et al. Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic 2012;13:185-194.
22. 2+ homeostasis in skeletal muscle. Front Physiol 2014;5:89.
23. Oulhen N, Onorato T, Ramos I, Wessel G. Dysferlin is essential for endocytosis in the sea star oocyte. Dev Biol 2014;388:94-102.
24. 2+- independent binding for membrane repair. Structure 2014;22:104-115.
25. Chicoine LG, Rodino-Klapac LR, Shao G, et al. Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin alpha2 surrogates. Mol Ther 2014;22:713-724.
26. Gao G, Vandenberghe LH, Wilson JM. New recombinant serotypes of AAV vectors. Curr Gene Ther 2005;5:285-297.
27. Heller KN, Montgomery CL, Janssen PM, et al. AAVmediated overexpression of human alpha7 integrin leads to histological and functional improvement in dystrophic mice. Mol Ther 2013;21:520-525.
28. Sahenk Z, Galloway G, Clark KR, et al. AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy. Mol Ther 2014;22:511-521.
29. Lai Y, Yue Y, Duan D. Evidence for the failure of adenoassociated virus serotype 5 to package a viral genome > or = 8.2 kb. Mol Ther 2010;18:75-79.
30. Allocca M, Doria M, Petrillo M, et al. Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. J Clin Invest 2008;118:1955-1964.
31. 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.
32. Wells DJ, Wells KE, Asante EA, et al. Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 1995;4:1245-1250.
33. Duan D, Yue Y, Yan Z, Engelhardt JF. A new dual-vector approach to enhance recombinant adeno-associated virusmediated gene expression through intermolecular cis activation. Nat Med 2000;6:595-598.
34. Ghosh A, Yue Y, Long C, et al. Efficient whole-body transduction with trans-splicing adeno-associated viral vectors. Mol Ther 2007;15:750-755.
35. Colella P, Trapani I, Cesi G, et al. Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors. Gene Ther 2014;21:450-456.
36. Koo T, Popplewell L, Athanasopoulos T, Dickson G. Triple trans-splicing adeno-associated virus vectors capable of transferring the coding sequence for full-length dystrophin protein into dystrophic mice. Hum Gene Ther 2014;25:98-108.
37. Dong B, Nakai H, Xiao W. Characterization of genome integrity for oversized recombinant AAV vector. Mol Ther 2010;18:87-92.
38. Wu Z, Yang H, Colosi P. Effect of genome size on AAV vector packaging. Mol Ther 2010;18:80-86.
39. Glover L, Newton K, Krishnan G, et al. Dysferlin overexpression in skeletal muscle produces a progressive myopathy. Ann Neurol 2010;67:384-393.
40. Schnepp BC, Jensen RL, Chen CL, et al. Characterization of adeno-associated virus genomes isolated from human tissues. J Virol 2005;79:14793-14803.
41. Rodino-Klapac LR, Janssen PM, Montgomery CL, et al. A translational approach for limb vascular delivery of the micro-dystrophin gene without high volume or high pressure for treatment of Duchenne muscular dystrophy. J Transl Med 2007;5:45.
42. Rafael-Fortney JA, Chimanji NS, Schill KE, et al. Early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in Duchenne muscular dystrophy mice. Circulation 2011;124:582-588.
43. Beastrom N, Lu H, Macke A, et al. mdx(cv) mice manifest more severe muscle dysfunction and diaphragm force deficits than do mdx mice. Am J Pathol 2011;179:2464-2474.
44. Labikova J, Vcelakova J, Ulmannova T, et al. The cytokine production of peripheral blood mononuclear cells reflects the autoantibody profile of patients suffering from type 1 diabetes. Cytokine 2014;69:189-195.
45. Ho M, Post CM, Donahue LR, et al. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet 2004;13:1999-2010.
46. Lostal W, Bartoli M, Bourg N, et al. Efficient recovery of dysferlin deficiency by dual adeno-associated vectormediated gene transfer. Hum Mol Genet 2010;19:1897-1907.
47. Fanin M, Nascimbeni A, Angelini C. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Neuromuscul Disord 2006;16:792-799.
48. Chicoine LG, Montgomery CL, Bremer WG, et al. Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery. Mol Ther 2014;22:338-347.
49. Kota J, Handy CR, Haidet AM, et al. Follistatin gene delivery enhances muscle growth and strength in nonhuman primates. Sci Transl Med 2009;1:6ra15.
50. Rodino-Klapac LR, Montgomery CL, Bremer WG, et al. Persistent expression of FLAG-tagged micro dystrophin in nonhuman primates following intramuscular and vascular delivery. Mol Ther 2010;18:109-117.
51. Rodino-Klapac LR, Montgomery CL, Mendell JR, Chicoine LG. AAV-mediated gene therapy to the isolated limb in rhesus macaques. Methods Mol Biol 2011;709:287-298.
52. Pahl L, Schubert S, Skawran B, et al. 1,25-Dihydroxyvitamin D decreases HTRA1 promoter activity in the rhesus monkey-a plausible explanation for the influence of vitamin D on age-related macular degeneration? Exp Eye Res 2013;116:234-239.
53. Sheppard N, Jones R, Burwitz B, et al. Vaccination against endogenous retrotransposable element consensus sequences does not protect rhesus macaques from SIVsmE660 infection and replication. PLoS One 2014;9:e92012.
54. Mendell JR, Rodino-Klapac LR, Rosales-Quintero X, et al. Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins. Ann Neurol 2009;66:290-297.
55. Mendell JR, Campbell K, Rodino-Klapac L, et al. Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010;363:1429-1437.
56. Mendell JR, Rodino-Klapac LR, Rosales XQ, et al. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010;68:629-638.