Neuromuscular Disorders
Volume 20, Issue 5 , Pages 346-354 , May 2010

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

  • Valérie Allamand

      Affiliations

    • UPMC Univ Paris 06, Institut de Myologie, IFR14 and Inserm, U974 and CNRS, UMR7215, Paris, France
    • Corresponding Author InformationCorresponding author. Tel.: +33 1 42 16 57 07; fax: +33 1 42 16 57 00.
    • ,
  • Luciano Merlini

      Affiliations

    • Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy and Laboratorio Biologia Cellulare Muscoloscheletrica, IOR, Bologna, Italy
    • ,
  • Kate Bushby

      Affiliations

    • Institute of Human Genetics, Newcastle University, Newcastle Upon Tyne NE1 3BZ, UK
    • ,
  • on behalf of the Consortium for Collagen VI-related myopathies

Received 5 February 2010 ,Accepted 11 February 2010.

References 

  1. Gualandi F, Urciuolo A, Martoni E, et al. Autosomal recessive Bethlem myopathy. Neurology. 2009;73:1883–1891
  2. Foley AR, Hu Y, Zou Y, et al. Autosomal recessive inheritance of classic Bethlem myopathy. Neuromusc Disord. 2009;19:813–817
  3. Pepe G, Giusti B, Bertini E, et al. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the [alpha]1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Com. 1999;258:802–807
  4. Merlini L, Bernardi P. Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics. 2008;5:613–618
  5. Pepe G, de Visser M, Bertini E, et al. Bethlem myopathy (Bethlem) 86th ENMC international workshop, 10–11 November 2000, Naarden, The Netherlands. Neuromusc Disord. 2002;12:296–305
  6. Ishikawa H, Sugie K, Murayama K, et al. Ullrich disease due to deficiency of collagen VI in the sarcolemma. Neurology. 2004;62:620–623
  7. Arts W, Bethlem J, Volkers W. Further investigations on benign myopathy with autosomal dominant inheritance. J Neurol. 1978;217:201–206
  8. Bethlem J, Van Wijngaarden GK. Benign myopathy with autosomal dominant inheritance: a report of three pedigrees. Brain. 1976;99:91–100
  9. Jobsis GJ, Boers JM, Barth PG, de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain. 1999;122:649–655
  10. Mohire MD, Tandan R, Fries TJ, et al. Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). Neurology. 1988;38:573–580
  11. Haq R, Speer M, Chu M, Tandan R. Respiratory muscle involvement in Bethlem myopathy. Neurology. 1999;52:174–176
  12. van der Kooi AJ, de Voogt WG, Bertini E, et al. Cardiac and Pulmonary Investigations in Bethlem Myopathy. Arch Neurol. 2006;63:1617–1621
  13. Bradley W, Hudgson P, Gardner-Medwin D, Walton JN. The syndrome of myosclerosis. J Neurol Neurosurg Psychiatry. 1973;36:651–660
  14. Quijano Roy S, Allamand V, Riahi N, et al. Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients. Neuromusc. Disord. 2007;17:844
  15. Nadeau A, Kinali M, Main M, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009;73:25–31
  16. Hicks D, Lampe AK, Barresi R, et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology. 2008;70:1192–1199
  17. Jimenez-Mallebrera C, Maioli MA, Kim J, et al. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromusc Disord. 2006;16:571–582
  18. Mercuri E, Lampe A, Allsop J, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromusc Disord. 2005;15:303–310
  19. Lampe AK, Dunn DM, Von Niederhausern AC, et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005;42(2):108–120
  20. Minamitani T, Ikuta T, Saito Y, et al. Modulation of collagen fibrillogenesis by tenascin-X and type VI collagen. Exp Cell Res. 2004;298:305–315
  21. Kirschner J, Hausser I, Zou Y, et al. Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes. Am J Med Genet A. 2005;132A:296–301
  22. Sabatelli P, Bonaldo P, Lattanzi G, et al. Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol. 2001;20:475–486
  23. Harumiya S, Gibson M, Koshihara Y. Antisense suppression of collagen VI synthesis results in reduced expression of collagen I in normal human osteoblast-like cells. Biosci Biotechnol Biochem. 2002;66:2743–2747
  24. Alexopoulos L, Youn I, Bonaldo P, Guilak F. Developmental and osteoarthritic changes in Col6a1-knockout mice: biomechanics of type VI collagen in the cartilage pericellular matrix. Arthritis Rheum. 2009;60:771–779
  25. Cheng JS, Dubal DB, Kim DH, et al. Collagen VI protects neurons against A[beta] toxicity. Nat Neurosci. 2009;12:119–121
  26. Leitinger B, Hohenester E. Mammalian collagen receptors. Matrix Biol. 2007;26:146–155
  27. Stallcup W. The NG2 proteoglycan: past insights and future prospects. J Neurocytol. 2002;31:423–435
  28. Somasundaram R, Ruehl M, Tiling N, et al. Collagens serve as an extracellular store of bioactive interleukin 2. J Biol Chem. 2000;275:38170–38175
  29. Somasundaram R, Ruehl M, Schaefer B, et al. Interstitial collagens I, III, and VI sequester and modulate the multifunctional cytokine oncostatin M. J Biol Chem. 2002;277:3242–3246
  30. Ruehl M, Somasundaram R, Schoenfelder I, et al. The epithelial mitogen keratinocyte growth factor binds to collagens via the consensus sequence glycine-proline-hydroxyproline. J Biol Chem. 2002;277:26872–26878
  31. Somasundaram R, Schuppan D. Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB). J Biol Chem. 1996;271:26884–26891
  32. Zou YMD, Zhang R-ZMD, Sabatelli PB, Chu M-LP, Bönnemann CGMD. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. J Neuropathol Exp Neurol. 2008;67:144–154
  33. Braghetta P, Ferrari A, Fabbro C, et al. An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells. Exp Cell Res. 2008;314:3508–3518
  34. Fitzgerald J, Rich C, Zhou FH, Hansen U. Three novel collagen VI chains, {alpha}4(VI), {alpha}5(VI), and {alpha}6(VI). J Biol Chem. 2008;283:20170–20180
  35. Gara SK, Grumati P, Urciuolo A, et al. Three novel collagen VI chains with high homology to the {alpha}3 chain. J Biol Chem. 2008;283:10658–10670
  36. Wagener R, Gara SK, Kobbe B, Paulsson M, Zaucke F. The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5′ part of the split COL6A4 gene. Matrix Biol. 2009;28:307–310
  37. Miyamoto Y, Shi D, Nakajima M, et al. Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis. Nat Genet. 2008;40:994–998
  38. Söderhäll C, Marenholz I, Kerscher T, et al. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol. 2007;5:e242
  39. Allamand V, Gartioux C, Lacène E, et al. Endoplasmic reticulum retention of COL6 chains in Ullrich congenital muscular dystrophy. Neuromusc Disord. 2007;17:833
  40. Bonaldo P, Braghetta P, Zanetti M, et al. Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum Mol Genet. 1998;7:2135–2140
  41. Irwin W, Bergamin N, Sabatelli P, et al. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet. 2003;35:367–371
  42. Palma E, Tiepolo T, Angelin A, et al. Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet. 2009;18:2024–2031
  43. Hicks D, Lampe AK, Laval SH, et al. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain. 2009;132:147–155
  44. Al-Rubeai M, Singh RP. Apoptosis in cell culture. Curr Opin Biotechnol. 1998;9:152–156
  45. Merlini L, Angelin A, Tiepolo T, et al. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Nat Acad Sci. 2008;105:5225–5229
  46. Angelin A, Tiepolo T, Sabatelli P, et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Nat Acad Sci. 2007;104:991–996
  47. Kragten E, Lalande I, Zimmermann K, et al. Glyceraldehyde-3-phosphate dehydrogenase, the putative target of the antiapoptotic compounds CGP 3466 and R-(−)-deprenyl. J Biol Chem. 1998;273:5821–5828
  48. Erb M, Meinen S, Barzaghi P, et al. Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-{alpha}2 deficiency. J Pharmacol Exp Ther. 2009;331(3):787–795
  49. Borel J, Baumann G, Chapman I, et al. In vivo pharmacological effects of cyclosporin and some analogues. Adv Pharmacol. 1996;35:115–246
  50. Tiepolo T, Angelin A, Palma E, et al. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1 myopathic mice. Br J Pharmacol. 2009;157:1045–1052
  51. Millay DP, Sargent MA, Osinska H, et al. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med. 2008;14:442–447
  52. Reutenauer J, Dorchies O, Patthey-Vuadens O, Vuagniaux G, Ruegg U. Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy. Br J Pharmacol. 2008;155:574–584
  53. Hansson MJ, Mattiasson G, Månsson R, et al. The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria. J Bioenerg Biomembr. 2004;36:407–413
  54. Sárközy A, Bushby K, Béroud C, Lochmüller H. 157th ENMC international workshop: patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands. Neuromusc Disord. 2008;18:997–1001

PII: S0960-8966(10)00068-4

doi: 10.1016/j.nmd.2010.02.012

Neuromuscular Disorders
Volume 20, Issue 5 , Pages 346-354 , May 2010

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