The Rag2 - Il2rb - Dmd - Mouse: A novel dystrophic and immunodeficient model to assess innovating therapeutic strategies for muscular dystrophies

Molecular Therapy

Volumn 21, Issue 10, 2013, Pages 1950-1957

  Vallese, Denis ^a,b,c,d   Negroni, Elisa ^a,b,c   Duguez, Stéphanie ^a,b,c   Ferry, Arnaud ^a,b,c   Trollet, Capucine ^a,b,c   Aamiri, Ahmed ^e   Vosshenrich, Christian Aj ^f,g   Füchtbauer, Ernst Martin ^h   Di Santo, James P ^f,g   Vitiello, Libero ^d   Butler Browne, Gillian ^a,b,c   Mouly, Vincent ^a,b,c  

^a SORBONNE UNIVERSITÉ   (France)

^b Sorbonne Université   (France)

^c CNRS   (France)

^d UNIVERSITY OF PADOVA   (Italy)

^e IBN ZOHR UNIVERSITY   (Morocco)

^f INSTITUT PASTEUR   (France)

^g INSTITUT PASTEUR   (France)

^h AARHUS UNIVERSITY   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; RAG2 PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; B LYMPHOCYTE; CONTROLLED STUDY; DISEASE MODEL; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MOUSE; MOUSE STRAIN; MUSCLE CELL; MUSCULAR DYSTROPHY; MYOGENIC STEM CELL; NATURAL KILLER CELL; NONHUMAN; PROTEIN SYNTHESIS INHIBITION; RAG2- IL2RB- DMD- MOUSE; STEM CELL; T LYMPHOCYTE; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE; XENOGRAFT;

ANIMALIA; MUS;

ANIMALS; CELL- AND TISSUE-BASED THERAPY; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; DYSTROPHIN; GENE KNOCKOUT TECHNIQUES; HUMANS; INFANT, NEWBORN; INTERLEUKIN-2 RECEPTOR BETA SUBUNIT; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED MDX; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, ANIMAL; MYOBLASTS; TRANSPLANTATION, HETEROLOGOUS; XENOGRAFT MODEL ANTITUMOR ASSAYS;

EID: 84885022556     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2013.186     Document Type: Article

References (46)

1. Mendell, JR, Shilling, C, Leslie, ND, Flanigan, KM, al-Dahhak, R, Gastier-Foster, J et al. (2012). Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 71: 304-313.
2. Matsuo, M (2002). Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy. IUBMB Life 53: 147-152.
3. Decary, S, Hamida, CB, Mouly, V, Barbet, JP, Hentati, F and Butler-Browne, GS (2000). Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children. Neuromuscul Disord 10: 113-120.
4. Willmann, R, Possekel, S, Dubach-Powell, J, Meier, T and Ruegg, MA (2009). Mammalian animal models for Duchenne muscular dystrophy. Neuromuscul Disord 19: 241-249.
5. Bulfield, G, Siller, WG, Wight, PA and Moore, KJ (1984). X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci USA 81: 1189-1192.
6. Sicinski, P, Geng, Y, Ryder-Cook, AS, Barnard, EA, Darlison, MG and Barnard, PJ (1989). The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244: 1578-1580.
7. Danko, I, Chapman, V and Wolff, JA (1992). The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy. Pediatr Res 32: 128-131.
8. De Luca, A (2012). Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. Acta Myol 31: 40-47.
9. Trollet, C, Athanasopoulos, T, Popplewell, L, Malerba, A and Dickson, G (2009). Gene therapy for muscular dystrophy: current progress and future prospects. Expert Opin Biol Ther 9: 849-866.
10. Negroni, E, Vallese, D, Vilquin, JT, Butler-Browne, G, Mouly, V and Trollet, C (2011). Current advances in cell therapy strategies for muscular dystrophies. Expert Opin Biol Ther 11: 157-176.
11. Partridge, TA, Grounds, M and Sloper, JC (1978). Evidence of fusion between host and donor myoblasts in skeletal muscle grafts. Nature 273: 306-308.
12. Flanagan, SP (1966). 'Nude', a new hairless gene with pleiotropic effects in the mouse. Genet Res 8: 295-309.
13. Murphy, WJ, Durum, SK, Anver, MR, Ferris, DK, McVicar, DW, O'Shea, JJ et al. (1994). Induction of T cell differentiation and lymphomagenesis in the thymus of mice with severe combined immune deficiency (SCID). J Immunol 153: 1004-1014.
14. Lovik, M (1995). The SCID (severe combined immunodeficiency) mouse-its biology and use in immunotoxicological research. Arch Toxicol (suppl. 17): 455-467.
15. Shinkai, Y, Rathbun, G, Lam, KP, Oltz, EM, Stewart, V, Mendelsohn, M et al. (1992). RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68: 855-867.
16. Kuwajima, S, Sato, T, Ishida, K, Tada, H, Tezuka, H and Ohteki, T (2006). Interleukin 15-dependent crosstalk between conventional and plasmacytoid dendritic cells is essential for CpG-induced immune activation. Nat Immunol 7: 740-746.
17. Colucci, F, Soudais, C, Rosmaraki, E, Vanes, L, Tybulewicz, VL and Di Santo, JP (1999). Dissecting NK cell development using a novel alymphoid mouse model: investigating the role of the c-abl proto-oncogene in murine NK cell differentiation. J Immunol 162: 2761-2765.
18. Wertz, K and Fuchtbauer, EM (1998). Dmd(mdx-beta geo): a new allele for the mouse dystrophin gene. Dev Dyn 212: 229-241.
19. Meng, J, Muntoni, F and Morgan, JE (2011). Stem cells to treat muscular dystrophies - where are we? Neuromuscul Disord 21: 4-12.
20. Tedesco, FS and Cossu, G (2012). Stem cell therapies for muscle disorders. Curr Opin Neurol 25: 597-603.
21. Morgan, JE, Pagel, CN, Sherratt, T and Partridge, TA (1993). Long-term persistence and migration of myogenic cells injected into pre-irradiated muscles of mdx mice. J Neurol Sci 115: 191-200.
22. Morrison, J, Lu, QL, Pastoret, C, Partridge, T and Bou-Gharios, G (2000). T-celldependent fibrosis in the mdx dystrophic mouse. Lab Invest 80: 881-891.
23. Torrente, Y, Belicchi, M, Sampaolesi, M, Pisati, F, Meregalli, M, D'Antona, G et al. (2004). Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle. J Clin Invest 114: 182-195.
24. Golumbek, PT, Keeling, RM and Connolly, AM (2007). RAG2 gene knockout in mice causes fatigue. Muscle Nerve 36: 471-476.
25. Clark, EA, Shultz, LD and Pollack, SB (1981). Mutations in mice that influence natural killer (NK) cell activity. Immunogenetics 12: 601-613.
26. Dorshkind, K, Pollack, SB, Bosma, MJ and Phillips, RA (1985). Natural killer (NK) cells are present in mice with severe combined immunodeficiency (scid). J Immunol 134: 3798-3801.
27. Silva-Barbosa, SD, Butler-Browne, GS, Di Santo, JP and Mouly, V (2005). Comparative analysis of genetically engineered immunodeficient mouse strains as recipients for human myoblast transplantation. Cell Transplant 14: 457-467.
28. Hodgetts, SI and Grounds, MD (2003). Irradiation of dystrophic host tissue prior to myoblast transfer therapy enhances initial (but not long-term) survival of donor myoblasts. J Cell Sci 116(Pt 20): 4131-4146.
29. Arechavala-Gomeza, V, Kinali, M, Feng, L, Guglieri, M, Edge, G, Main, M et al. (2010). Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord 20: 295-301.
30. Pastoret, C and Sebille, A (1995). mdx mice show progressive weakness and muscle deterioration with age. J Neurol Sci 129: 97-105.
31. Fukada, S, Morikawa, D, Yamamoto, Y, Yoshida, T, Sumie, N, Yamaguchi, M et al. (2010). Genetic background affects properties of satellite cells and mdx phenotypes. Am J Pathol 176: 2414-2424.
32. Andreetta, F, Bernasconi, P, Baggi, F, Ferro, P, Oliva, L, Arnoldi, E et al. (2006). Immunomodulation of TGF-beta 1 in mdx mouse inhibits connective tissue proliferation in diaphragm but increases inflammatory response: implications for antifibrotic therapy. J Neuroimmunol 175: 77-86.
33. Madaro, L, Pelle, A, Nicoletti, C, Crupi, A, Marrocco, V, Bossi, G et al. (2012). PKC theta ablation improves healing in a mouse model of muscular dystrophy. PLoS ONE 7: e31515.
34. Farini, A, Meregalli, M, Belicchi, M, Battistelli, M, Parolini, D, D'Antona, G et al. (2007). T and B lymphocyte depletion has a marked effect on the fibrosis of dystrophic skeletal muscles in the scid/mdx mouse. J Pathol 213: 229-238.
35. Stedman, HH, Sweeney, HL, Shrager, JB, Maguire, HC, Panettieri, RA, Petrof, B et al. (1991). The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy. Nature 352: 536-539.
36. Yokota, T, Lu, QL, Morgan, JE, Davies, KE, Fisher, R, Takeda, S et al. (2006). Expansion of revertant fibers in dystrophic mdx muscles reflects activity of muscle precursor cells and serves as an index of muscle regeneration. J Cell Sci 119(Pt 13): 2679-2687.
37. Ferrari, G, Stornaiuolo, A and Mavilio, F (2001). Failure to correct murine muscular dystrophy. Nature 411: 1014-1015.
38. Silva-Barbosa, SD, Butler-Browne, GS, de Mello, W, Riederer, I, Di Santo, JP, Savino, W et al. (2008). Human myoblast engraftment is improved in laminin-enriched microenvironment. Transplantation 85: 566-575.
39. Meng, J, Adkin, CF, Xu, SW, Muntoni, F and Morgan, JE (2011). Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice. PLoS ONE 6: e17454.
40. Arpke, RW, Darabi, R, Mader, TL, Zhang, Y, Toyama, A, Lonetree, CL et al. (2013). A New Immuno- Dystrophin-Deficient Model, the NSG-Mdx(4cv) Mouse, Provides Evidence for Functional Improvement Following Allogeneic Satellite Cell Transplantation. Stem Cells 31: 1611-1620.
41. Vosshenrich, CA, Ranson, T, Samson, SI, Corcuff, E, Colucci, F, Rosmaraki, EE et al. (2005). Roles for common cytokine receptor gamma-chain-dependent cytokines in the generation, differentiation, and maturation of NK cell precursors and peripheral NK cells in vivo. J Immunol 174: 1213-1221.
42. Butler-Browne, GS and Whalen, RG (1984). Myosin isozyme transitions occurring during the postnatal development of the rat soleus muscle. Dev Biol 102: 324-334.
43. Decary, S, Mouly, V, Hamida, CB, Sautet, A, Barbet, JP and Butler-Browne, GS (1997). Replicative potential and telomere length in human skeletal muscle: implications for satellite cell-mediated gene therapy. Hum Gene Ther 8: 1429-1438.
44. Negroni, E, Riederer, I, Chaouch, S, Belicchi, M, Razini, P, Di Santo, J et al. (2009). In vivo myogenic potential of human CD133+ muscle-derived stem cells: a quantitative study. Mol Ther 17: 1771-1778.
45. Koo, T, Malerba, A, Athanasopoulos, T, Trollet, C, Boldrin, L, Ferry, A et al. (2011). Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of a1-syntrophin and a-dystrobrevin in skeletal muscles of mdx mice. Hum Gene Ther 22: 1379-1388.
46. Foster, H, Sharp, PS, Athanasopoulos, T, Trollet, C, Graham, IR, Foster, K et al. (2008). Codon and mRNA sequence optimization of microdystrophin transgenes improves expression and physiological outcome in dystrophic mdx mice following AAV2/8 gene transfer. Mol Ther 16: 1825-1832.