AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not α-sarcoglycan deficiency

Gene Therapy

Volumn 14, Issue 9, 2007, Pages 733-740

  Bartoli, M ^a   Poupiot, J ^a   Vulin, A ^a   Fougerousse, F ^a   Arandel, L ^a   Daniele, N ^a   Roudaut, C ^a   Noulet, F ^a   Garcia, L ^a   Danos, O ^a   Richard, I ^a  

^a GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SARCOGLYCAN; CALPAIN 3; GLYCOPROTEIN; MUTANT PROTEIN; MYOSTATIN; PARVOVIRUS VECTOR; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; GENE EXPRESSION REGULATION; GENE MUTATION; GENE TRANSFER; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MOUSE; MUSCLE CELL; MUSCLE FORCE; MUSCLE MASS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ANIMALIA; MUS;

EID: 34247166670     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/sj.gt.3302928     Document Type: Article

References (48)

1. Grobet L, Martin LJ, Poncelet D, Pirottin D, Brouwers B, Riquet J et al. A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. Nat Genet 1997; 17: 71-74.
2. Kambadur R, Sharma M, Smith TP, Bass JJ. Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle. Genome Res 1997; 7: 910-916.
3. McPherron AC, Lee SJ. Double muscling in cattle due to mutations in the myostatin gene. Proc Natl Acad Sci USA 1997; 94: 12457-12461.
4. Szabo G, Dallmann G, Muller G, Patthy L, Soller M, Varga L. A deletion in the myostatin gene causes the compact (Cmpt) hypermuscular mutation in mice. Mamm Genome 1998; 9: 671-672.
5. Schuelke M, Wagner KR, Stolz LE, Hubner C, Riebel T, Komen W et al. Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 2004; 350: 2682-2688.
6. Clop A, Marcq F, Takeda H, Pirottin D, Tordoir X, Bibe B et al. A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep. Nat Genet 2006; 38 813-818.
7. McPherron AC, Lawler AM, Lee SJ. Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member. Nature 1997; 387: 83-90.
8. Zhu X, Hadhazy M, Wehling M, Tidball JG, McNally EM. Dominant negative myostatin produces hypertrophy without hyperplasia in muscle. FEBS Lett 2000; 474: 71-75.
9. Yang J, Ratovitski T, Brady JP, Solomon MB, Wells KD, Wall RJ. Expression of myostatin pro domain results in muscular transgenic mice. Mol Reprod Dev 2001; 60: 351-361.
10. Nishi M, Yasue A, Nishimatu S, Nohno T, Yamaoka T, Itakura M et al. A missense mutant myostatin causes hyperplasia without hypertrophy in the mouse muscle. Biochem Biophys Res Commun 2002; 293: 247-251.
11. Grobet L, Pirottin D, Farnir F, Poncelet D, Royo LJ, Brouwers B et al. Modulating skeletal muscle mass by postnatal, muscle-specific inactivation of the myostatin gene. Genesis 2003; 35: 227-238.
12. Whittemore LA, Song K, Li X, Aghajanian J, Davies M, Girgenrath S et al. Inhibition of myostatin in adult mice increases skeletal muscle mass and strength. Biochem Biophys Res Commun 2003; 300: 965-971.
13. Walsh FS, Celeste AJ. Myostatin: A modulator of skeletal-muscle stem cells. Biochem Soc Trans 2005; 33: 1513-1517.
14. Reisz-Porszasz S, Bhasin S, Artaza JN, Shen R, Sinha-Hikim I, Hogue A et al. Lower skeletal muscle mass in male transgenic mice with muscle-specific overexpression of myostatin. Am J Physiol Endocrinol Metab 2003; 285: E876-E888.
15. Zimmers TA, Davies MV, Koniaris LG, Haynes P, Esquela AF, Tomkinson KN et al. Induction of cachexia in mice by systemically administered myostatin. Science 2002; 296: 1486-1488.
16. Lee SJ. Regulation of muscle mass by myostatin. Annu Rev Cell Dev Biol 2004; 20: 61-86.
17. Tobin JF, Celeste AJ. Myostatin, a negative regulator of muscle mass: implications for muscle degenerative diseases. Curr Opin Pharmacol 2005; 5: 328-332.
18. Hill JJ, Davies MV, Pearson AA,Wang JH, Hewick RM,Wolfman NM et al. The myostatin propeptide and the follistatin-related gene are inhibitory binding proteins of myostatin in normal serum. J Biol Chem 2002; 277: 40735-40741.
19. Wolfman NM, McPherron AC, Pappano WN, Davies MV, Song K, Tomkinson KN et al. Activation of latent myostatin by the BMP-1/tolloid family of metalloproteinases. Proc Natl Acad Sci USA 2003; 100: 15842-15846.
20. Rebbapragada A, Benchabane H, Wrana JL, Celeste AJ, Attisano L. Myostatin signals through a transforming growth factor beta-like signaling pathway to block adipogenesis. Mol Cell Biol 2003; 23 7230-7242.
21. Zhu X, Topouzis S, Liang LF, Stotish RL. Myostatin signaling through Smad2, Smad3 and Smad4 is regulated by the inhibitory Smad7 by a negative feedback mechanism. Cytokine 2004; 26: 262-272.
22. Patel K, Amthor H. The function of Myostatin and strategies of myostatin blockade-new hope for therapies aimed at promoting growth of skeletal muscle. Neuromuscul Disord 2005; 15: 117-126.
23. Roth SM, Walsh S. Myostatin: A therapeutic target for skeletal muscle wasting. Curr Opin Clin Nutr Metab Care 2004; 7: 259-263.
24. Khurana TS, Davies KE. Pharmacological strategies for muscular dystrophy. Nat Rev Drug Discov 2003; 2: 379-390.
25. Engvall E, Wewer UM. The new frontier in muscular dystrophy research: booster genes. FASEB J 2003; 17: 1579-1584.
26. Bogdanovich S, Krag TO, Barton ER, Morris LD, Whittemore LA, Ahima RS et al. Functional improvement of dystrophic muscle by myostatin blockade. Nature 2002; 420: 418-421.
27. Wagner KR, McPherron AC, Winik N, Lee SJ. Loss of myostatin attenuates severity of muscular dystrophy in mdx mice. Ann Neurol 2002; 52 832-836.
28. Bogdanovich S, Perkins KJ, Krag TO, Whittemore LA, Khurana TS. Myostatin propeptide-mediated amelioration of dystrophic pathophysiology. FASEB J 2005; 19: 543-549.
29. Holmes JH, Ashmore CR, Robinson DW. Effects of stress on cattle with hereditary muscular hypertrophy. J Anim Sci 1973; 36: 684-694.
30. McMahon CD, Popovic L, Oldham JM, Jeanplong F, Smith HK, Kambadur R et al. Myostatin-deficient mice lose more skeletal muscle mass than wild-type controls during hindlimb suspension. Am J Physiol Endocrinol Metab 2003; 285: E82-E87.
31. Li ZF, Shelton GD, Engvall E. Elimination of myostatin does not combat muscular dystrophy in dy mice but increases postnatal lethality. Am J Pathol 2005; 166: 491-497.
32. Duguez S, Bartoli M, Richard I. Calpain 3: A key regulator of the sarcomere? FEBS J 2006; 273: 3427-3436.
33. Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994; 78: 625-633.
34. Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve 2005; 32: 563-576.
35. Lim LE, Campbell KP. The sarcoglycan complex in limb-girdle muscular dystrophy. Curr Opin Neurol 1998; 11: 443-452.
36. Kramerova I, Kudryashova E, Tidball JG, Spencer MJ. Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. Hum Mol Genet 2004; 13: 1373-1388.
37. Fougerousse F, Gonin P, Durand M, Richard I, Raymackers JM. Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption. Muscle Nerve 2003; 27: 616-623.
38. Bartoli M, Poupiot J, Goyenvalle A, Perez N, Garcia L, Danos O et al. Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies. Gene Therapy 2006; 13: 20-28.
39. Bartoli M, Roudaut C, Martin S, Fougerousse F, Suel L, Poupiot J et al. Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. Mol Ther 2006; 13: 250-259.
40. Kramerova I, Kudryashova E, Venkatraman G, Spencer MJ. Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway. Hum Mol Genet 2005; 14: 2125-2134.
41. Wang M, Orsini C, Casanova D, Millan JL, Mahfoudi A, Thuillier V. MUSEAP, a novel reporter gene for the study of long-term gene expression in immunocompetent mice. Gene 2001; 279: 99-108.
42. Snyder RO, Miao CH, Patijn GA, Spratt SK, Danos O, Nagy D et al. Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors. Nat Genet 1997; 16: 270-276.
43. Apparailly F, Khoury M, Vervoordeldonk MJ, Adriaansen J, Gicquel E, Perez N et al. Adeno-associated virus pseudotype 5 vector improves gene transfer in arthritic joints. Hum Gene Ther 2005; 16: 426-434.
44. Zhang HG, Wang YM, Xie JF, Liang X, Hsu HC, Zhang X et al. Recombinant adenovirus expressing adeno-associated virus cap and rep proteins supports production of high-titer recombinant adeno-associated virus. Gene Therapy 2001; 8: 704-712.
45. Fougerousse F, Bartoli M, Poupiot J, Arandel L, Durand M, Guerchet N et al. Phenotypic correction of α-sarcoglycan deficiency by intra-arterial injection of a muscle-specific serotype 1 rAAV vector. Mol Ther 2007; 15: 53-61.
46. Duclos F, Straub V, Moore SA, Venzke DP, Hrstka RF, Crosbie RH et al. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol 1998; 142: 1461-1471.
47. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995; 81: 27-40.
48. Gonin P, Arandel L, Van Wittenberghe L, Marais T, Perez N, Danos O. Femoral intra-arterial injection: A tool to deliver and assess recombinant AAV constructs in rodents whole hind limb. J Gene Med 2005; 7: 782-791.