Neuromuscular Disorders
Volume 11, Issue 4 , Pages 350-359 , May 2001

Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

  • Yukiko K Hayashi

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Ogawa-Higashi, Kodaira, Tokyo, Japan
    • ,
  • Zivana Tezak

      Affiliations

    • Children's National Medical Center, Children's Research Institute, Center for Genetic Medicine, Washington DC, USA
    • ,
  • Takashi Momoi

      Affiliations

    • Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Ogawa-Higashi, Kodaira, Tokyo, Japan
    • ,
  • Ikuya Nonaka

      Affiliations

    • National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, Ogawa-Higashi, Kodaira, Tokyo, Japan
    • ,
  • Carlos A Garcia

      Affiliations

    • Department of Neurology, Tulane University Medical Center, New Orleans, LA, USA
    • ,
  • Eric P Hoffman

      Affiliations

    • Children's National Medical Center, Children's Research Institute, Center for Genetic Medicine, Washington DC, USA
    • ,
  • Kiichi Arahata

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Ogawa-Higashi, Kodaira, Tokyo, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81-423-41-2711; fax: +81-423-46-1742

Received 28 March 2000 ,Revised 2 August 2000 ,Accepted 23 September 2000.

References 

  1. Sanes JR. The extracellular matrix. In:  Engel AG,  Franzini-Armstrong C editor. Myology. 2nd ed. 1994;p. 242–260
  2. Helbling-Leclerc A, Zhang X, Topaloglu H, et al.  Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995;11:216–218
  3. Guicheney P, Vignier N, Helbling LA, et al.  Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromusc Disord. 1997;7:180–186
  4. Tomé FM, Evangelista T, Leclerc A, et al.  Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994;317:351–357
  5. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle. Neuromusc Disord. 1995;5:301–305
  6. Dubowitz V, Fardeau M. Workshop report: proceedings of the 27th ENMC sponsored workshop on congenital muscular dystrophy. Neuromusc Disord. 1995;5:253–258
  7. Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol. 1995;10:472–475
  8. Mercuri E, Muntoni F, Berardinelli A, et al.  Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics. 1995;26:3–7
  9. Tiger CF, Champliaud MF, Pedrosa-Domellof F, et al.  Presence of laminin α5 chain and lack of laminin α1 chain during human muscle development and in muscular dystrophies. J Biol Chem. 1997;272:28590–28595
  10. Sewry CA, Philpot J, Mahony D, et al.  Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord. 1995;5:307–316
  11. Patton BL, Connoll AM, Martin PT, et al.  Distribution of ten laminin chains in dystrophic and regenerating muscles. Neuromusc Disord. 1999;9:423–433
  12. Vachon PH, Xu H, Liu L, et al.  Integrins (α7β1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy. J Clin Invest. 1997;100:1870–1881
  13. Hodges BL, Hayashi YK, Nonaka I, et al.  Altered expression of the α7β1 integrin in human and murine muscular dystrophies. J Cell Sci. 1997;110:2873–2881
  14. Cohn RD, Mayer U, Saher G, et al.  Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle. J Neurol Sci. 1999;163:140–152
  15. Vainzof M, Marie SK, Reed UC, et al.  Deficiency of merosin (laminin M or α2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics. 1995;26:293–297
  16. Hayashi YK, Engvall E, Arikawa-Hirasawa E, et al.  Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci. 1993;119:53–64
  17. Hayashi YK, Chou FL, Engvall E, et al.  Mutations in the integrin α7 gene cause congenital myopathy. Nat Genet. 1998;19:94–97
  18. Arahata K, Hoffman EP, Kunkel LM, et al.  Dystrophin diagnosis: Comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci USA. 1989;86:7157–7158
  19. Arahata K, Beggs AH, Honda H, et al.  Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci. 1991;101:148–156
  20. Hayashi Y, Mizuno Y, Yoshida M, et al.  The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin. Neurology. 1995;45:551–554
  21. Urase K, Fujita E, Miho Y, et al.  Detection of activated caspase-3 (CPP32) in the vertebrate nervous system during development by a cleavage site-directed antiserum. Brain Res Dev Brain Res. 1998;111:77–87
  22. Fujita E, Jinbo A, Matuzaki H, et al.  Akt phosphorylation site found in human caspase-9 is absent in mouse caspase-9. Biochem Biophys Res Commun. 1999;264:550–555
  23. Nagano A, Koga R, Ogawa M, et al.  Emerin deficiency at the nuclear membrane in patients with Emery–Dreifuss muscular dystrophy. Nat Genet. 1996;12:254–259
  24. Hayashi YK, Koga R, Tsukahara T, et al.  Deficiency of laminin α2 chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. Muscle Nerve. 1995;18:1027–1030
  25. Nissinen M, Helbling-Leclerc A, Zhang X, et al.  Substitution of a conserved cystein-996 in a cystein-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am. J. Hum. Genet. 1996;58:1177–1184
  26. Engel A, Biesecker G. Complement activation in muscle fiber necrosis: demonstration of the membrane attack complex of complement in necrotic fibers. Ann Neurol. 1982;12:289–296
  27. Davies A, Lachmann PJ. Membrane defence against complement lysis: the structure and biological properties of CD59. Immunol Res. 1993;12:258–275
  28. Navenot JM, Villanova M, Lucas HB, Malandrini A, Blanchard D, Louboutin JP. Expression of CD59, a regulator of the membrane attack complex of complement, on human skeletal muscle fibers. Muscle Nerve. 1997;20:92–96
  29. Gorospe JR, Tharp MD, Hinckley J, Kornegay JN, Hoffman EP. A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice. J Neurol Sci. 1994;122:44–56
  30. Pegoraro E, Mancias P, Swerdlow SH, et al.  Congenital muscular dystrophy with primary laminin α2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol. 1996;40:782–791
  31. Mayer U, Saher G, Fassler R, et al.  Absence of integrin α7 causes a novel form of muscular dystrophy. Nat Genet. 1997;17:318–323
  32. Vachon P, Loechel F, Xu H, Wewer U, Engvall E. Merosin and laminin in myogenesis; specific requirement for merosin in myotube stability and survival. J Cell Biol. 1996;134:1483–1497
  33. Vakeva AP, Agah A, Rollins SA, Matis LA, Li L, Stahl GL. Myocardial infarction and apoptosis after myocardial ischemia and reperfusion: role of the terminal complement components and inhibition by anti-C5 therapy. Circulation. 1998;97:2259–2267
  34. Sato T, Van DM, Prins FA, Mooney A, Verhagen N, Muizert Y, et al. The terminal sequence of complement plays an essential role in antibody-mediated renal cell apoptosis. J Am Soc Nephrol. 1999;10:1242–1252
  35. Hughes J, Nangaku M, Alpers CE, Shankland SJ, Couser WG, Johnson RJ. C5b-9 membrane attack complex mediates endothelial cell apoptosis in experimental glomerulonephritis. Am J Physiol Renal Physiol. 2000;278:F747–F757
  36. Jones J, Morgan B. Apoptosis is associated with reduced expression of complement regulatory molecules, adhesion molecules and other receptors on polymorphonuclear leucocytes: functional relevance and role in inflammation. Immunology. 1995;86:651–660
  37. Tsunoda S, Kawano M, Koni I, Kasahara Y, Yachie A, Miyawaki T, et al. Diminished expression of CD59 on activated CD8+ T cells undergoing apoptosis in systemic lupus erythematosus and Sjogren's syndrome. Scand J Immunol. 2000;51:293–299
  38. Soane L, Rus H, Niculescu F, Shin ML. Inhibition of oligodendrocyte apoptosis by sublytic C5b-9 is associated with enhanced synthesis of bcl-2 and mediated by inhibition of caspase-3 activation. J Immunol. 1999;163:6132–6138
  39. Dashiell SM, Rus H, Koski CL. Terminal complement complexes concomitantly stimulate proliferation and rescue of Schwann cells from apoptosis. Glia. 2000;30:187–198
  40. Matsuda R, Nishikawa A, Tanaka H. Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle. J Biochem (Tokyo). 1995;118:959–964
  41. Spencer MJ, Walsh CM, Dorshkind KA, Rodriguez EM, Tidball JG. Myonuclear apoptosis in dystrophic mdx muscle occurs by perforin- mediated cytotoxicity. J Clin Invest. 1997;99:2745–2751
  42. Pegoraro E, Marks H, Garcia CA, et al.  Laminin α2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology. 1998;51:101–110

PII: S0960-8966(00)00203-0

Neuromuscular Disorders
Volume 11, Issue 4 , Pages 350-359 , May 2001

Article Tools

* Image Usage & Resolution