Display options
Share it on

Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30.

ColVI myopathies: where do we stand, where do we go?.

Skeletal muscle

Valérie Allamand, Laura Briñas, Pascale Richard, Tanya Stojkovic, Susana Quijano-Roy, Gisèle Bonne

Affiliations

  1. Inserm, U974, Paris, France. [email protected].

PMID: 21943391 PMCID: PMC3189202 DOI: 10.1186/2044-5040-1-30

Abstract

Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathies also share common features with other disorders associated with prominent muscle contractures, making differential diagnosis difficult. This group of disorders, under-recognized for a long time, has aroused much interest over the past decade, with important advances made in understanding its molecular pathogenesis. Indeed, numerous mutations have now been reported in the COL6A1, COL6A2 and COL6A3 genes, a large proportion of which are de novo and exert dominant-negative effects. Genotype-phenotype correlations have also started to emerge, which reflect the various pathogenic mechanisms at play in these disorders: dominant de novo exon splicing that enables the synthesis and secretion of mutant tetramers and homozygous nonsense mutations that lead to premature termination of translation and complete loss of function are associated with early-onset, severe phenotypes. In this review, we present the current state of diagnosis and research in the field of ColVI myopathies. The past decade has provided significant advances, with the identification of altered cellular functions in animal models of ColVI myopathies and in patient samples. In particular, mitochondrial dysfunction and a defect in the autophagic clearance system of skeletal muscle have recently been reported, thereby opening potential therapeutic avenues.

References

  1. Am J Hum Genet. 1988 Mar;42(3):435-45 - PubMed
  2. Neuromuscul Disord. 2010 May;20(5):346-54 - PubMed
  3. J Biol Chem. 2003 Apr 25;278(17):15326-32 - PubMed
  4. BMC Med Genet. 2010 Mar 19;11:44 - PubMed
  5. J Invest Dermatol. 2011 Jan;131(1):99-107 - PubMed
  6. Ann Neurol. 2006 Jan;59(1):190-5 - PubMed
  7. Am J Med Genet A. 2005 Jan 30;132A(3):296-301 - PubMed
  8. Neurotherapeutics. 2008 Oct;5(4):613-8 - PubMed
  9. J Cell Biol. 1986 Mar;102(3):703-10 - PubMed
  10. Hum Mutat. 2008 Jun;29(6):809-22 - PubMed
  11. Hum Mol Genet. 2005 Jan 15;14(2):279-93 - PubMed
  12. J Biol Chem. 2009 Oct 9;284(41):28204-28211 - PubMed
  13. J Med Genet. 2005 Feb;42(2):108-20 - PubMed
  14. Brain. 2009 Nov;132(Pt 11):3175-86 - PubMed
  15. J Biol Chem. 2008 Jul 18;283(29):20170-80 - PubMed
  16. Exp Cell Res. 1998 May 25;241(1):230-41 - PubMed
  17. Neuromuscul Disord. 2007 Jul;17(7):547-57 - PubMed
  18. J Biol Chem. 2007 Nov 16;282(46):33381-33388 - PubMed
  19. Neuromuscul Disord. 2005 Apr;15(4):303-10 - PubMed
  20. Neuromuscul Disord. 2009 Dec;19(12):813-7 - PubMed
  21. Hum Mol Genet. 1998 Dec;7(13):2135-40 - PubMed
  22. Brain. 1999 Apr;122 ( Pt 4):649-55 - PubMed
  23. J Biol Chem. 1999 Nov 26;274(48):34361-8 - PubMed
  24. Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5331-6 - PubMed
  25. Nat Genet. 2003 Dec;35(4):367-71 - PubMed
  26. Neuromuscul Disord. 2002 Dec;12(10):984-93 - PubMed
  27. Bioessays. 2007 Oct;29(10):1001-10 - PubMed
  28. Neurol India. 2010 Jul-Aug;58(4):665-6 - PubMed
  29. J Pharmacol Exp Ther. 2009 Dec;331(3):787-95 - PubMed
  30. EMBO J. 1989 Jul;8(7):1939-46 - PubMed
  31. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6 - PubMed
  32. J Biol Chem. 1988 Dec 15;263(35):18601-6 - PubMed
  33. Adv Enzyme Regul. 2009;49(1):197-211 - PubMed
  34. Ann Neurol. 2008 Sep;64(3):294-303 - PubMed
  35. Neurology. 2009 Jul 7;73(1):25-31 - PubMed
  36. Neuromuscul Disord. 2006 Oct;16(9-10):571-82 - PubMed
  37. Neuropediatrics. 2003 Dec;34(6):335-6 - PubMed
  38. Neuromuscul Disord. 2003 Sep;13(7-8):554-8 - PubMed
  39. J Biol Chem. 1999 Jul 30;274(31):21817-22 - PubMed
  40. Brain. 2009 Jan;132(Pt 1):147-55 - PubMed
  41. Hum Genet. 2005 Sep;117(5):460-6 - PubMed
  42. Neurology. 2008 Oct 14;71(16):1245-53 - PubMed
  43. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21 - PubMed
  44. Neurology. 2007 Sep 4;69(10):1035-42 - PubMed
  45. Neurology. 2005 Jun 14;64(11):1931-7 - PubMed
  46. J Biol Chem. 1998 Mar 27;273(13):7423-30 - PubMed
  47. J Biol Chem. 2002 Jan 18;277(3):1949-56 - PubMed
  48. Neurology. 2007 Sep 4;69(10):1043-9 - PubMed
  49. FASEB J. 2000 Apr;14(5):761-8 - PubMed
  50. Neuromuscul Disord. 1999 Jun;9(4):264-71 - PubMed
  51. Neuromuscul Disord. 2008 Nov;18(11):843-56 - PubMed
  52. Neurology. 2008 Jul 29;71(5):312-21 - PubMed
  53. Annu Rev Biochem. 2007;76:51-74 - PubMed
  54. J Appl Physiol (1985). 2010 Jan;108(1):105-11 - PubMed
  55. Am J Hum Genet. 2002 Jun;70(6):1446-58 - PubMed
  56. Neuropediatrics. 1981 Aug;12(3):197-208 - PubMed
  57. Biochem J. 1983 May 1;211(2):303-11 - PubMed
  58. J Biol Chem. 1997 Apr 18;272(16):10769-76 - PubMed
  59. Neurology. 2009 Dec 1;73(22):1883-91 - PubMed
  60. Biochemistry. 1990 Feb 6;29(5):1245-54 - PubMed
  61. J Bioenerg Biomembr. 2004 Aug;36(4):407-13 - PubMed
  62. Clin Pharmacol Ther. 2007 Jan;81(1):99-103 - PubMed
  63. J Biol Chem. 1992 Mar 15;267(8):5250-6 - PubMed
  64. Hum Mol Genet. 2010 Jun 15;19(12):2433-44 - PubMed
  65. Ann Neurol. 2011 Jan;69(1):206-11 - PubMed
  66. J Mol Biol. 2003 Jul 4;330(2):297-307 - PubMed
  67. Am J Hum Genet. 2003 Aug;73(2):355-69 - PubMed
  68. EMBO J. 1990 Feb;9(2):385-93 - PubMed
  69. Neurology. 2002 Feb 26;58(4):593-602 - PubMed
  70. J Biol Chem. 2000 Jun 9;275(23):17381-90 - PubMed
  71. Neuropediatrics. 2004 Apr;35(2):103-12 - PubMed
  72. Ann Neurol. 2009 Jun;65(6):687-97 - PubMed
  73. Ann N Y Acad Sci. 2008 Dec;1147:303-11 - PubMed
  74. Cell. 2001 Jan 26;104(2):173-6 - PubMed
  75. Neuromuscul Disord. 2002 Mar;12(3):296-305 - PubMed
  76. J Biol Chem. 1997 Oct 17;272(42):26522-9 - PubMed
  77. J Histochem Cytochem. 1993 Oct;41(10):1447-57 - PubMed
  78. Ann N Y Acad Sci. 1985;460:25-37 - PubMed
  79. FEBS Lett. 1991 Dec 9;294(3):167-70 - PubMed
  80. Ann Neurol. 2007 Oct;62(4):390-405 - PubMed
  81. Matrix Biol. 2009 Jul;28(6):307-10 - PubMed
  82. Ann Neurol. 2005 Sep;58(3):400-10 - PubMed
  83. Exp Cell Res. 1992 Jun;200(2):490-9 - PubMed
  84. J Biol Chem. 2010 Oct 22;285(43):33567-33576 - PubMed
  85. BMC Med Genet. 2009 Dec 06;10:128 - PubMed
  86. Br J Pharmacol. 2009 Jul;157(6):1045-52 - PubMed
  87. J Cell Biol. 1992 Aug;118(4):979-90 - PubMed
  88. J Cell Biol. 1996 Nov;135(4):1163-77 - PubMed
  89. J Child Neurol. 2010 Dec;25(12):1559-81 - PubMed
  90. Neuromuscul Disord. 2010 Aug;20(8):517-23 - PubMed
  91. Matrix Biol. 2007 Apr;26(3):146-55 - PubMed
  92. J Biol Chem. 2003 Sep 26;278(39):37698-704 - PubMed
  93. Brain. 1976 Mar;99(1):91-100 - PubMed
  94. J Med Genet. 2005 Sep;42(9):673-85 - PubMed
  95. Ann Neurol. 2010 Feb;67(2):201-8 - PubMed
  96. Trends Genet. 2004 Jan;20(1):33-43 - PubMed
  97. Neurology. 2008 Apr 1;70(14):1192-9 - PubMed
  98. Hum Mutat. 2009 May;30(5):E662-72 - PubMed
  99. Ann Neurol. 2010 Oct;68(4):511-20 - PubMed
  100. Nat Genet. 1996 Sep;14(1):113-5 - PubMed
  101. Biochem Biophys Res Commun. 1999 May 19;258(3):802-7 - PubMed
  102. J Biol Chem. 2008 Apr 18;283(16):10658-70 - PubMed
  103. Nat Med. 2010 Nov;16(11):1313-20 - PubMed
  104. Nat Genet. 2009 May;41(5):596-601 - PubMed
  105. EMBO J. 1992 Dec;11(12):4281-90 - PubMed
  106. J Cell Biol. 1988 Nov;107(5):1995-2006 - PubMed
  107. J Biol Chem. 1996 Oct 18;271(42):26110-6 - PubMed
  108. PLoS Biol. 2007 Sep;5(9):e242 - PubMed
  109. Proc Natl Acad Sci U S A. 2008 Apr 1;105(13):5225-9 - PubMed
  110. Nat Rev Genet. 2009 Mar;10(3):173-83 - PubMed
  111. J Biol Chem. 2010 Mar 26;285(13):10005-10015 - PubMed
  112. Exp Cell Res. 2008 Nov 15;314(19):3508-18 - PubMed
  113. Exp Cell Res. 1993 May;206(1):167-76 - PubMed

Publication Types