Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy

Cell Death and Disease

Volumn 1, Issue 8, 2010, Pages

  Diaz Manera J ^a,b,c   Touvier, T ^a   Dellavalle, A ^a   Tonlorenzi, R ^a   Tedesco, F S ^a   Messina, G ^a,d   Meregalli, M ^d   Navarro, C ^d   Perani, L ^a   Bonfanti, C ^a   Illa, I ^b,c   Torrente, Y ^d   Cossu, G ^a,d  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^d UNIVERSITY OF MILAN   (Italy)

Author keywords

A J mice; Dysferlin; Mesoangioblasts; Stem cells; Therapy

Indexed keywords

DYSFERLIN; TRANSCRIPTION FACTOR PAX7; DYSF PROTEIN, MOUSE; MEMBRANE PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL DIFFERENTIATION; CELL MEMBRANE; CELL THERAPY; CONTROLLED STUDY; DYSFERLINOPATHY; GENE THERAPY; GENETIC ANALYSIS; LASER; MESENCHYME CELL; MESOANGIOBLAST; MOUSE; MUSCLE CELL; MYOPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SATELLITE CELL; AGING; ANIMAL; BIOASSAY; BLOOD VESSEL; C57BL MOUSE; CONVALESCENCE; DISEASE MODEL; INFLAMMATION; LIMB GIRDLE MUSCULAR DYSTROPHY; METABOLISM; MOUSE MUTANT; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; SKELETAL MUSCLE; TRANSPLANTATION;

MURINAE; MUS;

AGING; ANIMALS; BIOLOGICAL ASSAY; BLOOD VESSELS; DISEASE MODELS, ANIMAL; INFLAMMATION; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, SCID; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; RECOVERY OF FUNCTION;

EID: 79959947941     PISSN: None     EISSN: 20414889     Source Type: Journal    
DOI: 10.1038/cddis.2010.35     Document Type: Article

References (38)

1. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) ; 20:31-36. (Pubitemid 28410339)
2. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) ; 49:130-134. (Pubitemid 32163018)
3. Paradas C, Gonzalez-Quereda L, De Luna N, Gallardo E, Garcia-Consuegra I, Gomez H et al. A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord (2009) ; 19:21-25.
4. Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain (1999) ; 122(Pt 8):1403-1420. (Pubitemid 29374120)
5. Zatz M, de Paula F, Starling A, Vainzof M. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord (2003) ; 13:532-544. (Pubitemid 36961342)
6. Ho M, Post CM, Donahue LR, Lidov HG, Bronson RT, Goolsby H et al. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet (2004) ; 13:1999-2010. (Pubitemid 39377824)
7. Kobayashi K, Izawa T, Kuwamura M, Yamate J. The distribution and characterization of skeletal muscle lesions in dysferlin-deficient SJL and A/J mice. Exp Toxicol Pathol 2009, in press.
8. Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol (2004) ; 14:206-213. (Pubitemid 38447120)
9. Selcen D, Stilling G, Engel AG. The earliest pathologic alterations in dysferlinopathy. Neurology (2001) ; 56:1472-1481. (Pubitemid 32532258)
10. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature (2003) ; 423:168-172. (Pubitemid 36569539)
11. Cai C, Weisleder N, Ko JK, Komazaki S, Sunada Y, Nishi M et al. Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem (2009) ; 284:15894-15902.
12. Minasi MG, Riminucci M, De Angelis L, Borello U, Berarducci B, Innocenzi A et al. The meso-angioblast: a multipotent, self-renewing cell that originates from the dorsal aorta and differentiates into most mesodermal tissues. Development (2002) ; 129:2773-2783. (Pubitemid 34874259)
13. Cossu G, Sampaolesi M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med (2007) ; 13:520-526. (Pubitemid 350130348)
14. Sampaolesi M, Torrente Y, Innocenzi A, Tonlorenzi R, D'Antona G, Pellegrino MA et al. Cell therapy of alpha-sarcoglycan null dystrophic mice through intra-arterial delivery of mesoangioblasts. Science (2003) ; 301:487-492. (Pubitemid 36900300)
15. Sampaolesi M, Blot S, D'Antona G, Granger N, Tonlorenzi R, Innocenzi A et al. Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. Nature (2006) ; 444:574-579. (Pubitemid 44864430)
16. Dellavalle A, Sampaolesi M, Tonlorenzi R, Tagliafico E, Sacchetti B, Perani L et al. Pericytes of human skeletal muscle are myogenic precursors distinct from satellite cells. Nat Cell Biol (2007) ; 9:255-267. (Pubitemid 46349927)
17. Tonlorenzi R, Dellavalle A, Schnapp E, Cossu G, Sampaolesi M. Isolation and characterization of mesoangioblasts from mouse, dog, and human tissues. Curr Protoc Stem Cell Biol 2007; (Supp 3), Chapter 2: Unit 2B 1.
18. Messina G, Blasi C, La Rocca SA, Pompili M, Calconi A, Grossi M. p27Kip1 acts downstream of N-cadherin-mediated cell adhesion to promote myogenesis beyond cell cycle regulation. Mol Biol Cell (2005) ; 16:1469-1480. (Pubitemid 40349580)
19. Wenzel K, Zabojszcza J, Carl M, Taubert S, Lass A, Harris CL et al. Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy. J Immunol (2005) ; 175:6219-6225. (Pubitemid 41508111)
20. Nagaraju K, Rawat R, Veszelovszky E, Thapliyal R, Kesari A, Sparks S et al. Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limbgirdle muscular dystrophy 2B. Am J Pathol (2008) ; 172:774-785. (Pubitemid 351354549)
21. Messina G, Sirabella D, Monteverde S, Galvez BG, Tonlorenzi R, Schnapp E et al. Skeletal muscle differentiation of embryonic mesoangioblasts requires pax3 activity. Stem Cells (2009) ; 27:157-164.
22. Illa I, De Luna N, Dominguez-Perles R, Rojas-Garcia R, Paradas C, Palmer J et al. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology (2007) ; 68:1284-1289. (Pubitemid 46625974)
23. Fanin M, Nascimbeni AC, 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. (Pubitemid 44646857)
24. De Luna N, Gallardo E, Rojas-Garcia R, Dominguez-Perles R, Díaz-Manera J, De La Torre C et al. Quantification of dysferlin in monocytes: a useful tool for the detection of patients and carriers of dysferlinopathy. Neuromuscul Disord (2009) ; 18:790-791.
25. Leriche-Guerin K, Anderson LV, Wrogemann K, Roy B, Goulet M, Tremblay JP. Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice. Neuromuscul Disord (2002) ; 12:167-173. (Pubitemid 33152735)
26. Lostal W, Bartoli M, Bourg N, Roudaut C, Bentaib A, Miyake K et al. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Hum Mol Genet (2010) ; 19:1897-1907.
27. Skuk D, Tremblay JP. Progress in myoblast transplantation: a potential treatment of dystrophies. Microsc Res Tech (2000) ; 48:213-222. (Pubitemid 30086194)
28. Pavlov V, Raedler H, Yuan S, Leisman S, Kwan WH, Lalli PN et al. Donor deficiency of decay-accelerating factor accelerates murine T cell-mediated cardiac allograft rejection. J Immunol (2008) ; 181:4580-4589.
29. Brodsky SV, Nadasdy GM, Pelletier R, Satoskar A, Birmingham DJ, Hadley GA et al. Expression of the decay-accelerating factor (CD55) in renal transplants - a possible prediction marker of allograft survival. Transplantation (2009) ; 88:457-464.
30. Gargioli C, Coletta M, De Grandis F, Cannata SM, Cossu G. PlGF-MMP-9-expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle. Nat Med (2008) ; 14:973-978.
31. Palumbo R, Sampaolesi M, De Marchis F, Tonlorenzi R, Colombetti S, Mondino A et al. Extracellular HMGB1, a signal of tissue damage, induces mesoangioblast migration and proliferation. J Cell Biol (2004) ; 164:441-449. (Pubitemid 38174771)
32. Peault B, Rudnicki M, Torrente Y, Cossu G, Tremblay JP, Partridge T et al. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther (2007) ; 15:867-877. (Pubitemid 46621645)
33. Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown Jr RH, Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology (2001) ; 57:2136-2138. (Pubitemid 33126892)
34. Fanin M, Angelini C. Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol (2002) ; 28:461-470. (Pubitemid 35425599)
35. Linssen WH, Notermans NC, Van der Graaf Y, Wokke JH, Van Doorn PA, Howeler CJ et al. Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain (1997) ; 120(Pt 11):1989-1996. (Pubitemid 27493735)
36. Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, Labelle V et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol (2007) ; 64:1176-1182. (Pubitemid 47258078)
37. Tajbakhsh S, Vivarelli E, Cusella-De Angelis G, Rocancourt D, Buckingham M, Cossu G. A population of myogenic cells derived from the mouse neural tube. Neuron (1994) ; 13:813-821. (Pubitemid 24347295)
38. Rosenblatt JD, Lunt AI, Parry DJ, Partridge TA. Culturing satellite cells from living single muscle fiber explants. In Vitro Cell Dev Biol Anim (1995) ; 31:773-779.