Collagen type VI myopathies

Advances in Experimental Medicine and Biology

Volumn 802, Issue , 2014, Pages 185-199

  Bushby, Kate M D ^a   Collins, James ^b   Hicks, Debbie ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Bethlem myopathy; COL6A2 and COL6A3; Mutations in collagen VI genes COL6A1; Ullrich congenital muscular dystrophy

Indexed keywords

ALISPORIVIR; ALPHA 1 ADRENERGIC RECEPTOR; COLLAGEN TYPE 6; CREATINE KINASE; CYCLOSPORIN A; DYSTROPHIN; GLYCOPROTEIN; HISTAMINE H1 RECEPTOR; LOSARTAN; OMIGAPIL; SEROTONIN 2 RECEPTOR; SNT 201317; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT LIMB GIRDLE MUSCULAR DYSTROPHY; AUTOSOMAL RECESSIVE MYOSCLEROSIS MYOPATHY; BETHLEM MYOPATHY; CENTRAL CORE DISEASE; CLINICAL FEATURE; COL6A1 GENE; COL6A2 GENE; COL6A3 GENE; CONNECTIVE TISSUE DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DRUG PROTEIN BINDING; DRUG RECEPTOR BINDING; EHLERS DANLOS SYNDROME; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE; GENE MUTATION; GENETIC COUNSELING; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; MOTOR DYSFUNCTION; MUSCLE WEAKNESS; MYOPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS INHIBITION; SKIN DISEASE; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; DIAGNOSTIC PROCEDURE; LIMB GIRDLE MUSCULAR DYSTROPHY; MARFAN SYNDROME; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; MYOSCLEROSIS; PATHOGENESIS;

EID: 84934444659     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-94-7-7893-1_12     Document Type: Article

References (77)

1. Angelin A, Tiepolo T, Sabatelli P et al (2007) Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A 104:991-996
2. Baker NL, Morgelin M, Peat R et al (2005) Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 14:279-293
3. Bernasconi P, Di Blasi C, Mora M et al (1999) Transforming growth factor-beta1 and fi brosis in congenital muscular dystrophies. Neuromuscul Disord 9:28-33
4. Bethlem J, Wijngaarden GK (1976) Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Brain 99:91-100
5. Bonaldo P, Braghetta P, Zanetti M et al (1998) Collagen VI defi ciency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy. Hum Mol Genet 7:2135-2140
6. Bonnemann CG, Brockmann K, Hanefeld F (2003) Muscle ultrasound in Bethlem myopathy. Neuropediatrics 34:335-336
7. Bovolenta M, Neri M, Martoni E et al (2010) Identifi cation of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet 11:44
8. Bradley WG, Hudgson P, Gardner-Medwin D et al (1973) The syndrome of myosclerosis. J Neurol Neurosurg Psychiatry 36:651-660
9. Braghetta P, Ferrari A, Fabbro C et al (2008) An enhancer required for transcription of the Col6a1 gene in muscle connective tissue is induced by signals released from muscle cells. Exp Cell Res 314:3508-3518
10. Bri'as L, Richard P, Quijano-Roy S et al (2010) Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol 68:511-520
11. Camacho Vanegas O, Bertini E, Zhang RZ et al (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 98:7516-7521
12. Carlile GW, Chalmers-Redman RM, Tatton NA et al (2000) Reduced apoptosis after nerve growth factor and serum withdrawal: Conversion of tetrameric glyceraldehyde- 3-phosphate dehydrogenase to a dimer. Mol Pharmacol 57:2-12
13. Chu ML, Pan TC, Conway D et al (1990) The structure of type VI collagen. Ann N Y Acad Sci 580:55-63
14. Cohn RD, Van Erp C, Habashi JP et al (2007) Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 13:204-210
15. Demir E, Sabatelli P, Allamand V et al (2002) Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 70:1446-1458
16. Dziadek M, Darling P, Bakker M et al (1996) Deposition of collagen VI in the extracellular matrix during mouse embryogenesis correlates with expression of the [alpha]3(VI) subunit gene. Exp Cell Res 226:302-315
17. Elbaz M, Yanay N, Aga-Mizrachi S et al (2012) Losartan, a therapeutic candidate in congenital muscular dystrophy: Studies in the dy(2J)/dy(2J) mouse. Ann Neurol 71:699-708
18. Engvall E, Hessle H, Klier G (1986) Molecular assembly, secretion, and matrix deposition of type VI collagen. J Cell Biol 102:703-710
19. Erb M, Meinen S, Barzaghi P et al (2009) Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-Alpha2 defi ciency. J Pharmacol Exp Ther 331:787-795
20. Foley AR, Hu Y, Zou Y et al (2009) Autosomal recessive inheritance of classic Bethlem myopathy. Neuromuscul Disord 19:813-817
21. Foley AR, Hu Y, Zou Y et al (2011) Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy. Ann Neurol 69:206-211
22. Furthmayr H, Wiedemann H, Timpl R et al (1983) Electron-microscopical approach to a structural model of intima collagen. Biochem J 211:303-311
23. Grumati P, Coletto L, Sabatelli P et al (2010) Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofi ber degeneration. Nat Med 16:1313-1320
24. Gualandi FM, Urciuolo AB, Martoni EP et al (2009) Autosomal recessive Bethlem myopathy. Neurology 73:1883-1891
25. Hansson MJ, Mattiasson G, Mansson R et al (2004) The nonimmunosuppressive cyclosporin analogs NIM811 and UNIL025 display nanomolar potencies on permeability transition in brain-derived mitochondria. J Bioenerg Biomembr 36:407-413
26. Haq RU, Speer MC, Chu ML et al (1999) Respiratory muscle involvement in Bethlem myopathy. Neurology 52:174-176
27. Heiskanen M, Saitta B, Palotie A et al (1995) Head to tail organization of the human COL6A1 and COL6A2 genes by fi ber-FISH. Genomics 29:801-803
28. Hicks D, Lampe AK, Barresi R et al (2008) A refi ned diagnostic algorithm for Bethlem myopathy. Neurology 70:1192-1199
29. Hicks D, Lampe AK, Laval SH et al (2009) Cyclosporine a treatment for Ullrich congenital muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue. Brain 132:147-155
30. Higuchi I, Horikiri T, Niiyama T et al (2003) Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI defi ciency. Neuromuscul Disord 13:310-316
31. Irwin WA, Bergamin N, Sabatelli P et al (2003) Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI defi ciency. Nat Genet 35:367-371
32. Ishikawa H, Sugie K, Murayama K et al (2004) Ullrich disease due to defi ciency of collagen VI in the sarcolemma. Neurology 62:620-623
33. Ishikawa H, Sugie K, Murayama K et al (2002) Ullrich disease: Collagen VI defi ciency: EM suggests a new basis for muscular weakness. Neurology 59:920-923
34. Jimenez-Mallebrera C, Maioli MA, Kim J et al (2006) A comparative analysis of collagen VI production in muscle, skin and fi broblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord 16:571-582
35. Jobsis GJ, Keizers H, Vreijling JP et al (1996) Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 14:113-115
36. Jungbluth H, Davis MR, Muller C et al (2004) Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 14:785-790
37. Kawahara G, Ogawa M, May MO et al (2008) Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve 38:1192-1195
38. Kawahara GP, Okada MM, Morone NP et al (2007) Reduced cell anchorage may cause sarcolemmaspecifi c collagen VI defi ciency in Ullrich disease. Neurology 69:1043-1049
39. Kragten E, Lalande I, Zimmermann K et al (1998) Glyceraldehyde-3- phosphate dehydrogenase, the putative target of the antiapoptotic compounds CGP 3466 and R-(-)-deprenyl. J Biol Chem 273:5821-5828
40. Lamande SR, Bateman JF (1999) Procollagen folding and assembly: The role of endoplasmic reticulum enzymes and molecular chaperones. Semin Cell Dev Biol 10:455-464
41. Lamande SR, Morgelin M, Selan C et al (2002) Kinked collagen VI tetramers and reduced microfi bril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem 277:1949-1956
42. Lamande SR, Sigalas E, Pan TC et al (1998) The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-Terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-defi cient cell line. J Biol Chem 273:7423-7430
43. Lampe AK, Bushby KM (2005) Collagen VI related muscle disorders. J Med Genet 42:673-685
44. Lucioli S, Giusti B, Mercuri E et al (2005) Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 64:1931-1937
45. Mercuri E, Cini C, Pichiecchio A et al (2003) Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul Disord 13:554-558
46. Mercuri E, Counsell S, Allsop J et al (2002) Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 33:10-14
47. Mercuri E, Lampe A, Allsop J et al (2005) Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord 15:303-310
48. Merlini L, Angelin A, Tiepolo T et al (2008) Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A 105:5225-5229
49. Merlini L, Martoni E, Grumati P et al (2008) Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 71:1245-1253
50. Merlini L, Morandi L, Granata C et al (1994) Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families. Neuromuscul Disord 4:503-511
51. Muntoni F, Bertini E, Bonnemann C et al (2002) 98th ENMC international workshop on Congenital Muscular Dystrophy (CMD). In: 7th workshop of the international consortium on CMD, 2nd workshop of the MYO CLUSTER project GENRE, Naarden, 26-28 Oct 2001. Neuromuscul Disord 12:889-896
52. Nadeau A, Kinali M, Main M et al (2009) Natural history of Ullrich congenital muscular dystrophy. Neurology 73:25-31
53. Ncbi (2008) COL6A1 expression profi le. From http:// www.ncbi.nlm.nih. gov/UniGene/ESTProfi leViewer. cgi?uglist=Hs.474053
54. Palma E, Tiepolo T, Angelin A et al (2009) Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice. Hum Mol Genet 18:2024-2031
55. Pan TC, Zhang RZ, Sudano DG et al (2003) New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 73:355-369
56. Peat RA, Baker NL, Jones KJ et al (2007) Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscul Disord 17:547-557
57. Pepe G, Bertini E, Bonaldo P et al (2002) Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 12:984-993
58. Pepe G, Bertini E, Giusti B et al (1999) A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord 9:264-271
59. Pepe G, Giusti B, Bertini E et al (1999) A heterozygous splice site mutation in COL6A1 leading to an inframe deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Commun 258:802-807
60. Pepe G, Lucarini L, Zhang R-Z et al (2006) COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. Ann Neurol 59:190-195
61. Quijano-Roy S, Mbieleu B, Bonnemann CG et al (2008) De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 64:177-186
62. Sabatelli P, Bonaldo P, Lattanzi G et al (2001) Collagen VI defi ciency affects the organization of fi bronectin in the extracellular matrix of cultured fi broblasts. Matrix Biol 20:475-486
63. Sanes JR (2003) The basement membrane/basal lamina of skeletal muscle.[see comment]. J Biol Chem 278:12601-12604
64. Scacheri PC, Gillanders EM, Subramony SH et al (2002) Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype. Neurology 58:593-602
65. Schara U, Kress W, Bonnemann CG et al (2008) The phenotype and long-Term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 12:224-230
66. Somer H, Laulumaa V, Paljarvi L et al (1991) Benign muscular dystrophy with autosomal dominant inheritance. Neuromuscul Disord 1:267-273
67. Telfer WR, Busta AS, Bonnemann CG et al (2010) Zebrafi sh models of collagen VI-related myopathies. Hum Mol Genet 19:2433-2444
68. Tiepolo T, Angelin A, Palma E et al (2009) The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1(-/-) myopathic mice. Br J Pharmacol 157:1045-1052
69. Usuki F, Yamashita A, Higuchi I et al (2004) Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease. Ann Neurol 55:740-744
70. Usuki F, Yamashita A, Kashima I et al (2006) Specifi c inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fi broblasts. Mol Ther J Am Soc Gene Ther 14:351-360
71. Vanegas OC, Zhang RZ, Sabatelli P et al (2002) Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. Muscle Nerve 25:513-519
72. Walchli C, Koller E, Trueb J et al (1992) Structural comparison of the chicken genes for alpha1(VI) and alpha2(VI) collagen. Eur J Biochem 205:583-589
73. Wallgren-Pettersson C, Pelin K, Nowak KJ et al (2004) Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-Actin. Neuromuscul Disord 14:461-470
74. Wang CH, Bonnemann CG, Rutkowski A et al (2010) Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 25:1559-1581
75. Weil D, Mattei MG, Passage E et al (1988) Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 42:435-445
76. Zhang RZ, Sabatelli P, Pan TC et al (2002) Effects on collagen VI mRNA stability and microfi brillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J Biol Chem 277:43557-43564
77. Zou Y, Zhang RZ, Sabatelli P et al (2008) 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 67:144-154