1α,25(OH)2-vitamin D3 increases dysferlin expression in vitro and in a human clinical trial

Molecular Therapy

Volumn 20, Issue 10, 2012, Pages 1988-1997

  Luna, Noemi De ^a,b   Díaz Manera, Jordi ^a,b   Paradas, Carmen ^b,c   Iturriaga, Cristina ^a,b   Rojas García, Ricardo ^a,b   Araque, Josefa ^a,b   Genebriera, Mireia ^a,b   Gich, Ignasi ^a   Illa, Isabel ^a,b   Gallardo, Eduard ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

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

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIFEDIOL; CALCITRIOL; COLECALCIFEROL RECEPTOR; DYSFERLIN; MITOGEN ACTIVATED PROTEIN KINASE;

ABSENCE OF SIDE EFFECTS; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG EFFECT; DYSF GENE; DYSFERLINOPATHY; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MALE; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; OBSERVATIONAL STUDY; PROMOTER REGION; PROTEIN EXPRESSION; RANDOMIZED CONTROLLED TRIAL; RECEPTOR BINDING;

EID: 84866994990     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2012.156     Document Type: Article

References (45)

1. Bushby, KM (1999). Making sense of the limb-girdle muscular dystrophies. Brain 122 (Pt 8): 1403-1420.
2. Bashir, R, Britton, S, Strachan, T, Keers, S, Vafadaki, E, Lako, M et al. (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20: 37-42.
3. Illa, I, Serrano-Munuera, C, Gallardo, E, Lasa, A, Rojas-García, R, Palmer, J et al. (2001). Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49: 130-134.
4. Liu, J, Aoki, M, Illa, I, Wu, C, Fardeau, M, Angelini, C et al. (1998). Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20: 31-36.
5. Illa, I, De Luna, N, Domínguez-Perles, R, Rojas-García, R, Paradas, C, Palmer, J et al. (2007). Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 68: 1284-1289.
6. Klinge, L, Dean, AF, Kress, W, Dixon, P, Charlton, R, Müller, JS et al. (2008). Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord 18: 288-290.
7. Paradas, C, González-Quereda, L, De Luna, N, Gallardo, E, García-Consuegra, I, Gómez, H et al. (2009). A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord 19: 21-25.
8. Lerario, A, Cogiamanian, F, Marchesi, C, Belicchi, M, Bresolin, N, Porretti, L et al. (2010). Effects of rituximab in two patients with dysferlin-defcient muscular dystrophy. BMC Musculoskelet Disord 11: 157.
9. Nemoto, H, Konno, S, Sugimoto, H, Nakazora, H, Nomoto, N, Murata, M et al. (2011). Anti-TNF therapy using etanercept suppresses degenerative and infammatory changes in skeletal muscle of older SJL/J mice. Exp Mol Pathol 90: 264-270.
10. Leriche-Guérin, K, Anderson, LV, Wrogemann, K, Roy, B, Goulet, M and Tremblay, JP (2002). Dysferlin expression after normal myoblast transplantation in SCID and in SJL mice. Neuromuscul Disord 12: 167-173.
11. Kong, KY, Ren, J, Kraus, M, Finklestein, SP and Brown, RH Jr (2004). Human umbilical cord blood cells differentiate into muscle in SJL muscular dystrophy mice. Stem Cells 22: 981-993.
12. Vieira, NM, Bueno, CR Jr, Brandalise, V, Moraes, LV, Zucconi, E, Secco, M et al. (2008). SJL dystrophic mice express a signifcant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression. Stem Cells 26: 2391-2398.
13. Díaz-Manera, J, Touvier, T, Dellavalle, A, Tonlorenzi, R, Tedesco, FS, Messina, G et al. (2010). Partial dysferlin reconstitution by adult murine mesoangioblasts is suffcient for full functional recovery in a murine model of dysferlinopathy. Cell Death Dis 1: e61.
14. Lostal, W, Bartoli, M, Bourg, N, Roudaut, C, Bentaïb, A, Miyake, K et al. (2010). Effcient recovery of dysferlin defciency by dual adeno-associated vector-mediated gene transfer. Hum Mol Genet 19: 1897-1907.
15. Krahn, M, Wein, N, Bartoli, M, Lostal, W, Courrier, S, Bourg-Alibert, N et al. (2010). A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Sci Transl Med 2: 50ra69.
16. Anderson, LV, Davison, K, Moss, JA, Young, C, Cullen, MJ, Walsh, J et al. (1999). Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 8: 855-861.
17. Klinge, L, Laval, S, Keers, S, Haldane, F, Straub, V, Barresi, R et al. (2007). From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J 21: 1768-1776.
18. Ho, M, Gallardo, E, McKenna-Yasek, D, De Luna, N, Illa, I and Brown Jr, RH (2002). A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 51: 129-133.
19. De Luna, N, Freixas, A, Gallano, P, Caselles, L, Rojas-García, R, Paradas, C et al. (2007). Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord 17: 69-76.
20. Miyaura, C, Abe, E, Kuribayashi, T, Tanaka, H, Konno, K, Nishii, Y et al. (1981). 1 alpha, 25-Dihydroxyvitamin D3 induces differentiation of human myeloid leukemia cells. Biochem Biophys Res Commun 102: 937-943.
21. Tanaka, H, Abe, E, Miyaura, C, Shiina, Y and Suda, T (1983). 1 alpha, 25-dihydroxyvitamin D3 induces differentiation of human promyelocytic leukemia cells (HL-60) into monocyte-macrophages, but not into granulocytes. Biochem Biophys Res Commun 117: 86-92.
22. Boland, R, Buitrago, C and De Boland, AR (2005). Modulation of tyrosine phosphorylation signalling pathways by 1alpha, 25(OH)2-vitamin D3. Trends Endocrinol Metab 16: 280-287.
23. Norman, AW, Nemere, I, Zhou, LX, Bishop, JE, Lowe, KE, Maiyar, AC et al. (1992). 1, 25(OH)2-vitamin D3, a steroid hormone that produces biologic effects via both genomic and nongenomic pathways. J Steroid Biochem Mol Biol 41: 231-240.
24. Tsai, MJ and O'Malley, BW (1994). Molecular mechanisms of action of steroid/thyroid receptor superfamily members. Annu Rev Biochem 63: 451-486.
25. Morelli, S, Buitrago, C, Boland, R and de Boland, AR (2001). The stimulation of MAP kinase by 1, 25(OH)(2)-vitamin D(3) in skeletal muscle cells is mediated by protein kinase C and calcium. Mol Cell Endocrinol 173: 41-52.
26. Kliewer, SA, Umesono, K, Mangelsdorf, DJ and Evans, RM (1992). Retinoid X receptor interacts with nuclear receptors in retinoic acid, thyroid hormone and vitamin D3 signalling. Nature 355: 446-449.
27. Toell, A, Polly, P and Carlberg, C (2000). All natural DR3-type vitamin D response elements show a similar functionality in vitro. Biochem J 352 Pt 2: 301-309.
28. Wang, TT, Tavera-Mendoza, LE, Laperriere, D, Libby, E, MacLeod, NB, Nagai, Y et al. (2005). Large-scale in silico and microarray-based identifcation of direct 1, 25-dihydroxyvitamin D3 target genes. Mol Endocrinol 19: 2685-2695.
29. Favata, MF, Horiuchi, KY, Manos, EJ, Daulerio, AJ, Stradley, DA, Feeser, WS et al. (1998). Identifcation of a novel inhibitor of mitogen-activated protein kinase kinase. J Biol Chem 273: 18623-18632.
30. Gallardo, E, de Luna, N, Diaz-Manera, J, Rojas-García, R, Gonzalez-Quereda, L, Flix, B et al. (2011). Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. PLoS ONE 6: e29061.
31. Ronda, AC, Buitrago, C, Colicheo, A, de Boland, AR, Roldán, E and Boland, R (2007). Activation of MAPKs by 1alpha, 25(OH)2-vitamin D3 and 17beta-estradiol in skeletal muscle cells leads to phosphorylation of Elk-1 and CREB transcription factors. J Steroid Biochem Mol Biol 103: 462-466.
32. de Luna, N, Gallardo, E, Soriano, M, Dominguez-Perles, R, de la Torre, C, Rojas-García, R et al. (2006). Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro". J Biol Chem 281: 17092-17098.
33. Stephan, L, Bouchentouf, M, Mills, P, Lafreniere, JF and Tremblay, JP (2007). 1, 25-dihydroxyvitamin D3 increases the transplantation success of human muscle precursor cells in SCID mice. Cell Transplant 16: 391-402.
34. Glover, L and Brown, RH Jr (2007). Dysferlin in membrane traffcking and patch repair. Traffc 8: 785-794.
35. Wallace, GQ and McNally, EM (2009). Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. Annu Rev Physiol 71: 37-57.
36. Pike, JW and Meyer, MB (2010). The vitamin D receptor: new paradigms for the regulation of gene expression by 1, 25-dihydroxyvitamin D(3). Endocrinol Metab Clin North Am 39: 255-69, table of contents.
37. Nagaraju, K, Rawat, R, Veszelovszky, E, Thapliyal, R, Kesari, A, Sparks, S et al. (2008). Dysferlin defciency enhances monocyte phagocytosis: a model for the infammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol 172: 774-785.
38. Gallardo, E, Rojas-García, R, de Luna, N, Pou, A, Brown, RH Jr and Illa, I (2001). Infammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57: 2136-2138.
39. McNally, EM, Ly, CT, Rosenmann, H, Mitrani Rosenbaum, S, Jiang, W, Anderson, LV et al. (2000). Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with infammation. Am J Med Genet 91: 305-312.
40. De Luna, N, Gallardo, E, Rojas-Garcia, R, Dominguez-Perles, R, Diaz-Manera, J, De la Torre, Cet al. (2008). Quantifcation of dysferlin in monocytes: a useful tool for the detection of patients and carriers of dysferlinopathy. Neuromuscul Disord 18: 790-791.
41. Wang, B, Yang, Z, Brisson, BK, Feng, H, Zhang, Z, Welch, EM et al. (2010). Membrane blebbing as an assessment of functional rescue of dysferlin-defcient human myotubes via nonsense suppression. J Appl Physiol 109: 901-905.
42. Ward, KA, Das, G, Roberts, SA, Berry, JL, Adams, JE, Rawer, R et al. (2010). A randomized, controlled trial of vitamin D supplementation upon musculoskeletal health in postmenarchal females. J Clin Endocrinol Metab 95: 4643-4651.
43. Jacobsen, RB, Hronek, BW, Schmidt, GA and Schilling, ML (2011). Hypervitaminosis D associated with a vitamin D dispensing error. Ann Pharmacother 45: e52.
44. Hathcock, JN, Shao, A, Vieth, R and Heaney, R (2007). Risk assessment for vitamin D. Am J Clin Nutr 85: 6-18.
45. Azakir, BA, Di Fulvio, S, Kinter, J and Sinnreich, M (2012). Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. J Biol Chem 287: 10344-10354.