Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy

Stem Cell Research and Therapy

Volumn 5, Issue 1, 2014, Pages

  Alexeev, Vitali ^a   Arita, Machiko ^a   Donahue, Adele ^a   Bonaldo, Paolo ^b   Chu, Mon Li ^a   Igoucheva, Olga ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6;

ADIPOSE TISSUE; ANIMAL; CELL CULTURE; CELL DIFFERENTIATION; CYTOLOGY; GENETICS; HUMAN; MALE; MESENCHYMAL STEM CELL TRANSPLANTATION; MESENCHYMAL STROMA CELL; METABOLISM; MOUSE; MUSCULAR DYSTROPHIES; NEWBORN; PREPUCE;

ADIPOSE TISSUE; ANIMALS; CELL DIFFERENTIATION; CELLS, CULTURED; COLLAGEN TYPE VI; FORESKIN; HUMANS; INFANT, NEWBORN; MALE; MESENCHYMAL STEM CELL TRANSPLANTATION; MESENCHYMAL STROMAL CELLS; MICE; MUSCULAR DYSTROPHIES;

EID: 84894273668     PISSN: None     EISSN: 17576512     Source Type: Journal    
DOI: 10.1186/scrt411     Document Type: Article

References (41)

1. The collagen VI-related myopathies: muscle meets its matrix. CG Bonnemann, Nat Rev Neurol 2011 7 379 390 10.1038/nrneurol.2011.81 21691338
2. Congenital muscular dystrophies: a brief review. E Betrini, A D'Amico, F Gualandi, S Petrini, Semin Pediatr Neurol 2011 18 277 288 10.1016/j.spen.2011. 10.010 22172424
3. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. FL Norwood, C Harling, PF Chinnery, M Eagle, K Bushby, V Straub, Brain 2009 132 3175 3186 10.1093/brain/awp236 19767415
4. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. M Okada, G Kawahara, S Noguchi, K Sugie, K Murayama, I Nonaka, YK Hayashi, I Nishino, Neurology 2007 69 1035 1042 10.1212/01.wnl.0000271387.10404.4e 17785673 (Pubitemid 47366058)
5. Diagnosis and etiology of congenital muscular dystrophy. RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, SJ Kaufman, SR Lamande, KN North, Neurology 2008 71 312 321 10.1212/01.wnl.0000284605.27654.5a 18160674
6. Collagen VI related muscle disorders. AK Lampe, KM Bushby, J Med Genet 2005 42 673 685 10.1136/jmg.2002.002311 16141002 (Pubitemid 41306057)
7. An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells. P Braghetta, A Ferrari, C Fabbro, D Bizzotto, D Volpin, P Bonaldo, GM Bressan, Exp Cell Res 2008 314 3508 3518 10.1016/j.yexcr.2008.08.006 18761340
8. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. Y Zou, RZ Zhang, P Sabatelli, ML Chu, CG Bonnemann, J Neuropathol Exp Neurol 2008 67 144 154 10.1097/nen.0b013e3181634ef7 18219255
9. The structure of type VI collagen. ML Chu, TC Pan, D Conway, B Saitta, D Strokes, HJ Kuo, R Glanville, R Timple, K Mann, R Deutzmann, Ann N Y Acad Sci 1990 580 55 63 10.1111/j.1749-6632.1990.tb17917.x 2337306 (Pubitemid 20170386)
10. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. O Camacho Vanegas, E Bertini, RZ Zhang, S Petrini, C Minosse, P Sabatelli, B Giusti, ML Chu, G Pepe, Proc Natl Acad Sci U S A 2001 98 7516 7521 10.1073/pnas.121027598 11381124 (Pubitemid 32567980)
11. Frameshift mutation in the collagen VI gene causes Ullrich's disease. I Higuchi, T Shiraishi, T Hashiguchi, M Suehara, T Niiyama, M Nakagawa, K Arimura, I Maruyama, M Osame, Ann Neurol 2001 50 261 265 10.1002/ana.1120 11506412 (Pubitemid 32738154)
12. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. E Demir, P Sabatelli, V Allamand, A Ferreiro, B Moghadaszadeh, M Makrelouf, H Topaloglu, B Echenne, L Merlini, P Guicheney, Am J Hum Genet 2002 70 1446 1458 10.1086/340608 11992252 (Pubitemid 34533892)
13. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. P Bonaldo, P Braghetta, M Zanetti, S Piccolo, D Volpin, GM Bressan, Hum Mol Genet 1998 7 2135 2140 10.1093/hmg/7.13.2135 9817932 (Pubitemid 28546424)
14. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. A Angelin, T Tiepolo, P Sabatelli, P Grumati, N Bergamin, C Golfieri, E Mattioli, F Gualandi, A Ferlini, L Merlini, L Maraldi, P Bonaldo, P Bernardi, Proc Natl Acad Sci U S A 2007 104 991 996 10.1073/pnas.0610270104 17215366 (Pubitemid 46154724)
15. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. WA Irwin, N Bergamin, P Sabatelli, C Reggiani, A Megighian, L Merlini, P Braghetta, M Columbaro, D Volpin, GM Bressan, P Bernardi, P Bonaldo, Nat Genet 2003 35 367 371 10.1038/ng1270 14625552 (Pubitemid 37486921)
16. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. P Grumati, L Coletto, P Sabatelli, M Cescon, A Angelin, E Bertaggia, B Blaauw, A Urciuolo, T Tiepolo, L Merlini, NM Maraldi, P Bernardi, M Sandri, P Bonaldo, Nat Med 2010 16 1313 1320 10.1038/nm.2247 21037586
17. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. L Merlini, A Angelin, T Tiepolo, P Braghetta, P Sabatelli, A Zamparelli, A Ferlini, NM Maraldi, P Bonaldo, P Bernardi, Proc Natl Acad Sci U S A 2008 105 5225 5229 10.1073/pnas.0800962105 18362356 (Pubitemid 351738538)
18. Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. L Merlini, P Sabatelli, A Armaroli, S Gnudi, A Angelin, P Grumati, ME Michelini, A Franchella, F Gualandi, E Bertini, NM Maraldi, A Ferlini, P Bonaldo, P Bernardi, Oxid Med Cell Longev 2011 2011 139194 22028947
19. Stem cell therapies to treat muscular dystrophy: progress to date. M Meregalli, A Farini, D Parolini, S Maciotta, Y Torrente, BioDrugs 2010 24 237 247 10.2165/11534300-000000000-00000 20623990
20. Human bone-marrow-derived mesenchymal stem cells: biological characteristics and potential role in therapy of degenerative diseases. M Kassem, BM Abdallah, Cell Tissue Res 2008 331 157 163 10.1007/s00441-007-0509-0 17896115 (Pubitemid 350265499)
21. The regulation of differentiation in mesenchymal stem cells. A Augello, C De Bari, Hum Gene Ther 2010 21 1226 1238 10.1089/hum.2010.173 20804388
22. Fat tissue: an underappreciated source of stem cells for biotechnology. JK Fraser, I Wulur, Z Alsonso, M Hedrick, Trends in Biotech 2006 24 150 154 10.1016/j.tibtech.2006.01.010
23. Comparative analysis of mesenchymal stem cells from bone marrow, umbilical cord, or adipose tissue. S Kern, H Eichler, J Stoeve, H Kluter, K Bieback, Stem Cells 2006 24 1294 1301 10.1634/stemcells.2005-0342 16410387 (Pubitemid 44464698)
24. Suppression of allogeneic T-cell prolferation by humna marrow stromal cells: implications in transplantation. WT Tse, Transplantation 2003 75 389 397 10.1097/01.TP.0000045055.63901.A9 12589164 (Pubitemid 36222968)
25. Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. E Tillet, H Wiedemann, R Golbik, TC Pan, RZ Zhang, K Mann, ML Chu, R Timpl, Eur J Biochem 1994 221 177 185 10.1111/j.1432-1033.1994.tb18727.x 8168508 (Pubitemid 24120560)
26. Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. RZ Zhang, Y Zou, TC Pan, D Markova, A Fertala, Y Hu, S Squarzoni, UC Reed, SK Marie, CG Bonnemann, ML Chu, J Biol Chem 2010 285 10005 10015 10.1074/jbc.M109.093666 20106987
27. Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan. U Specks, U Mayer, R Nischt, T Spissinger, K Mann, R Timpl, J Engel, ML Chu, EMBO J 1992 11 4281 4290 1425570
28. Minimal criteria for defining multipotent mesenchymal stromal cells. The International Society for Cellular Therapy position statement. M Dominici, K Le Blanc, I Mueller, I Slaper-Cortenbach, F Marini, D Krause, R Deans, A Keating, D Prockop, E Horwitz, Cytotherapy 2006 8 315 317 10.1080/14653240600855905 16923606 (Pubitemid 44269669)
29. Mesenchymal stromal cells. Biology of adult mesenchymal stem cells: regulation of niche, self-renewal and differentiation. CM Kolf, E Cho, RS Tuan, Arthritis Res Ther 2007 9 204 10.1186/ar2116 17316462 (Pubitemid 47288993)
30. Gene expression signatures of mouse bone marrow-derived mesenchymal stem cells in cutaneous environment and therapeutic implications for blistering skin disorder. V Alexeev, J Uitto, O Igoucheva, Cytotherapy 2011 13 30 45 10.3109/14653249.2010.518609 20854215
31. Cell based therapy for Duchenne muscular dystrophy. A Farini, P Razini, S Erratico, Y Torrente, M Meregalli, J Cell Physiol 2009 221 526 534 10.1002/jcp.21895 19688776
32. Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane. C De Bari, F Dell'Accio, F Vandenabeele, JR Vermeesch, JM Raymackers, FP Luyten, J Cell Biol 2003 160 909 918 10.1083/jcb.200212064 12629053 (Pubitemid 36350845)
33. The contribution of human synovial stem cells to skeletal muscle regeneration. J Meng, CF Adkin, V Arechavala-Gomeza, L Boldrin, F Muntoni, JE Morgan, Neuromuscul Disord 2010 20 6 15 10.1016/j.nmd.2009.11.007 20034794
34. SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression. NM Vieira, CR Bueno Jr, V Brandalise, LV Moraes, E Zucconi, M Secco, MF Suzuki, MM Camargo, P Bartolini, PC Brum, M Vainzof, M Zatz, Stem Cells 2008 26 2391 2398 10.1634/stemcells.2008-0043 18583542
35. Local injections of adipose-derived mesenchymal stem cells modulate inflammation and increase angiogenesis ameliorating the dystrophic phenotype in dystrophin-deficient skeletal muscle. CH da Justa Pinheiro, JC de Queiroz, L Guimaraes-Ferreira, KF Vitzel, RT Nachbar, LG de Sousa, AL de Souza-Jr, MT Nunes, R Curi, Stem Cell Rev 2012 8 363 374 10.1007/s12015-011-9304-0 21874281
36. Mesenchymal stem cells as anti-inflammatories: implications for treatment of Duchenne muscular dystrophy. TE Ichim, DT Alexandrescu, F Solano, F Lara, RN Campion, E Paris, EJ Woods, MP Murphy, CA Dasanu, AN Patel, AM Marleau, A Leal, NH Riordan, Cell Immunol 2010 260 75 82 10.1016/j.cellimm.2009.10.006 19917503
37. Myogenic stem cells for the therapy of primary myopathies: wishful thinking or therapeutic perspective? G Cossu, F Mavilio, J Clin Invest 2000 105 1669 1674 10.1172/JCI10376 10862780 (Pubitemid 30421746)
38. Collagen VI regulates satellite cell self-renewal and muscle regeneration. A Urciuolo, M Quarta, V Morbidoni, F Gattazzo, S Molon, P Grumati, F Montemurro, FS Tedesco, B Blaauw, G Cossu, G Vozzi, TA Rando, P Bonaldo, Nat Commun 1964 2013 4
39. Severe reduction in leukocyte adhesion and monocyte extravasation in mice deficient in CC chemokine receptor 2. WA Kuziel, SJ Morgan, TC Dawson, S Griffin, O Smithies, K Ley, N Maeda, Proc Natl Acad Sci USA 1997 94 12053 12058 10.1073/pnas.94.22.12053 9342361 (Pubitemid 27467841)
40. Redundant function of macrophage inflammatory protein-2 and KC in tumor necrosis factor-alpha-induced extravasation of neutrophils in vivo. XW Zhang, Y Wang, Q Liu, H Thorlacius, Eur J Pharmacol 2001 427 277 283 10.1016/S0014- 2999(01)01235-3 11567658 (Pubitemid 32913295)
41. Chemokine expression and control of muscle cell migration during myogenesis. CA Griffin, LH Apponi, KK Long, GK Pavlath, J Cell Sci 2010 123 3052 3060 10.1242/jcs.066241 20736301