Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients

Gene Therapy

Volumn 12, Issue 22, 2005, Pages 1651-1662

  Vilquin, J T ^a   Marolleau, J P ^b   Sacconi, S ^c   Garcin, I ^a   Lacassagne, M N ^b   Robert, I ^b   Ternaux, B ^b   Bouazza, B ^a   Larghero, J ^b   Desnuelle, C ^c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SAINT LOUIS HOSPITAL   (France)

^c UNIVERSITY HOSPITAL OF NICE   (France)

Author keywords

Cell transplantation; Facioscapulohumeral muscular dystrophy; Muscle differentiation; Muscle regeneration; Myoblast; Telomere

Indexed keywords

CD56 ANTIGEN; DESMIN;

ADULT; ARTICLE; AUTOTRANSPLANTATION; CELL DIFFERENTIATION; CELL GROWTH; CELL PROLIFERATION; CELL REGENERATION; CELL TRANSPLANTATION; CLINICAL ARTICLE; CONTROLLED STUDY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEASIBILITY STUDY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MYOBLAST; PHENOTYPE; PRIORITY JOURNAL; TELOMERE;

ANIMALS; ANTIGENS, CD56; BIOLOGICAL MARKERS; BIOPSY; CASE-CONTROL STUDIES; CELL DIFFERENTIATION; CELL PROLIFERATION; CELLS, CULTURED; DESMIN; ELECTROMYOGRAPHY; FEASIBILITY STUDIES; HUMANS; MICE; MICE, SCID; MICROSCOPY, PHASE-CONTRAST; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; MYOBLASTS; PATIENT SELECTION; REGENERATION; TELOMERE; TRANSPLANTATION, AUTOLOGOUS;

EID: 27944486698     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/sj.gt.3302565     Document Type: Article

References (58)

1. Lunt P. Facioscapulohumeral muscular dystrophy: Diagnostic and molecular aspects. In: Deymeer F (ed). Neuromuscular Diseases: From Basic Mechanisms to Clinical Management. Monographs in Clinical Neuroscience, Vol. 18. Karger: Basel, Freiburg, Paris, London, New York, New Delhi, Bangkok, Singapore, Tokyo, Sydney, 2000: 44-60.
2. Wijmenga C et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992; 2: 26-33.
3. Hewitt JE et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994; 3: 1287-1295.
4. Lunt PW et al. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995; 4: 951-958.
5. Tawil R et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996; 39: 744-748.
6. Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002; 110: 339-348.
7. Winokur ST et al. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Gen 2003; 12: 2895-2907.
8. van der Kooi EL et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology 2004; 63: 702-708.
9. Skuk D, Roy B, Goulet M, Tremblay JP. Successful myoblast transplantation in primates depends on appropriate cell delivery and induction of regeneration in the host muscle. Exp Neurol 1999; 155: 22-30.
10. Skuk D, Goulet M, Roy B, Tremblay JP. Efficacy of myoblast transplantation in nonhuman primates following simple intramuscular cell injections: Toward defining strategies applicable to humans. Exp Neurol 2002; 175: 112-126.
11. Blau HM, Webster C, Pavlath GK. Defective myoblasts identified in Duchenne muscular dystrophy. Proc Natl Acad Sci USA 1983; 80: 4856-4860.
12. Webster C, Blau HM. Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: Implications for cell and gene therapy. Somat Cell Mol Genet 1990; 16: 557-565.
13. Wright WE. Myoblast senescence in muscular dystrophy. Exp Cell Res 1985; 157: 343-354.
14. Irintchev A et al. Functional improvement of damaged adult mouse muscle by implantation of primary myoblasts. J Physiol 1997; 500: 775-785.
15. Arcila ME et al. Mass and functional capacity of regenerating muscle is enhanced by myoblast transfer. J Neurobiol 1997; 33: 185-198.
16. Huard J et al. High efficiency of muscle regeneration after human myoblast clone transplantation in SCID mice. J Clin Invest 1994; 93: 586-599.
17. Kinoshita I et al. Very efficient myoblast allotransplantation in mice under FK506 immunosuppression. Muscle Nerve 1994; 17: 1407-1415.
18. Kinoshita I, Vilquin JT, Roy R, Tremblay JP. Successive injections in mdx mice of myoblasts grown with bFGF. Neuromuscul Disord 1996; 6: 187-193.
19. Partridge TA et al. Conversion of mdx myofibres from dystrophin-negative to dystrophin-positive by injection of normal myoblasts. Nature 1989; 337: 176-179.
20. Morgan JE, Pagel CN, Sherratt T, Partridge TA. Long-term persistence and migration of myogenic cells injected into pre-irradiated muscles of mdx mice. J Neurol Sci 1993; 115: 191-200.
21. Gussoni E et al. Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation. Nature 1992; 356: 435-438.
22. Huard J et al. Human myoblast transplantation: Preliminary results of 4 cases. Muscle Nerve 1992; 15: 550-560.
23. Karpati G et al. Myoblast transfer in Duchenne muscular dystrophy. Ann Neurol 1993; 34: 8-17.
24. Law PK et al. Dystrophin production induced by myoblast transfer therapy in Duchenne muscular dystrophy. Lancet 1990; 336: 114-115.
25. Mendell JR et al. Myoblast transfer in the treatment of Duchenne's muscular dystrophy. N Engl J Med 1995; 333: 832-838.
26. Miller RG et al. Myoblast implantation in Duchenne muscular dystrophy: the San Francisco study. Muscle Nerve 1997; 20: 469-478.
27. Morandi L et al. Lack of mRNA and dystrophin expression in DMD patients three months after myoblast transfer. Neuromuscul Disord 1995; 5: 291-295.
28. Neumeyer AM et al. Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy. Neurology 1998; 51: 589-592.
29. Tremblay JP et al. Results of a triple blind clinical study of myoblast transplantations without immunosuppressive treatment in young boys with Duchenne muscular dystrophy. Cell Transplant 1993; 2: 99-112.
30. Skuk D, Goulet M, Roy B, Tremblay JP. Myoblast transplantation in whole muscle of non human primates. J Neuropathol Exp Neurol 2000; 59: 197-206.
31. Skuk D et al. Dystrophin expression in myofibers of Duchenne muscular dystrophy patients following intramuscular injections of normal myogenic cells. Mol Therapy 2004; 9: 475-482.
32. Hagege AA et al. Viability and differentiation of autologous skeletal myoblast grafts in ischaemic cardiomyopathy. Lancet 2003; 361: 491-492.
33. Menasché P et al. First successful clinical myoblast transplantation for heart failure. Lancet 2001; 357: 279-280.
34. Menasche P et al. Autologous skeletal myoblast transplantation for severe postinfarction left ventricular dysfunction. J Am Coll Cardiol 2003; 41: 1078-1083.
35. Pagani FD et al. Autologous skeletal myoblasts transplanted to ischemia-damaged myocardium in humans. J Am Coll Cardiol 2003; 41: 879-888.
36. Pouly J et al. Does the functional efficacy of skeletal myoblast transplantation extend to nonischemic cardiomyopathy? Circulation 2004; 110: 1626-1631.
37. Vignos PJ, Spencer GE, Archibald KC. Management of progressive muscular dystrophy in childhood. JAMA 1963; 184: 89-96.
38. Illa I, Leon-Monzon M, Dalakas MC. Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells. Ann Neurol 1992; 31: 46-52.
39. Lanier LL, Testi R, Bindl J, Phillips JH. Identity of Leu-19 (CD56) leukocyte differentiation antigen and neural cell adhesion molecule. J Exp Med 1989; 169: 2233-2238.
40. Webster C et al. Isolation of human myoblasts with the fluorescence-activated cell sorter. Exp Cell Res 1988; 174: 252-265.
41. Li ZL, Lilienbaum A, Butler-Browne G, Paulin D. Human desmin-coding gene: Complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. Gene 1989; 78: 243-254.
42. Allsopp RC et al. Telomere length predicts replicative capacity of human fibroblasts. Proc Natl Acad Sci USA 1992; 89: 10114-10118.
43. Decary S et al. Replicative potential and telomere length in human skeletal muscle: Implications for satellite cell-mediated gene therapy. Hum Gene Ther 1997; 8: 1429-1438.
44. Decary S et al. Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children. Neuromuscul Disord 2000; 10: 113-120.
45. van der Maarel SM et al. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet 2000; 66: 26-35.
46. Goldman JP et al. Enhanced human cell engraftment in mice deficient in RAG2 and the common cytokine receptor gamma chain. Br J Haematol 1998; 103: 335-342.
47. Cooper RN et al. A new immunodeficient mouse model for human myoblast transplantation. Hum Gene Therapy 2001; 12: 823-831.
48. Skuk D et al. Transplantation of human myoblasts in SCID mice as a potential muscular model for myotonic dystrophy. J Neuropathol Exp Neurol 1999; 58: 921-931.
49. Vilquin JT et al. Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles. Gene Therapy 1999; 6: 792-800.
50. Winokur ST et al. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord 2003; 13: 322-333.
51. Blau HM et al. Differentiation properties of pure populations of human dystrophic muscle cells. Exp Cell Res 1983; 144: 495-503.
52. Furling D et al. Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 2001; 10: 2079-2087.
53. Renault V et al. Regenerative potential of human skeletal muscle during aging. Aging Cell 2002; 1: 132-139.
54. Vandebrouck C et al. Normal calcium homeostasis in dystrophin-expressing facioscapulohumeral muscular dystrophy myotubes. Neuromuscul Disord 2002; 12: 266-272.
55. Hoffman EP, Brown Jr RH, Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
56. Xu H et al. Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci USA 1994; 91: 5572-5576.
57. Xu H, Wu XR, Wewer UM, Engvall E. Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nat Genet 1994; 8: 297-302.
58. Richard I et al. Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice. J Cell Biol 2000; 151: 1583-1590.