Journal of the Neurological Sciences
Volume 211, Issue 1 , Pages 23-28 , 15 July 2003

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

  • Kazuhiko Tagawa

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • Department of Molecular Therapeutics, Tokyo Metropolitan Institute for Neuroscience, 2-6 Musashidai, Fuchu, Tokyo 183-8526, Japan
    • ,
  • Megumu Ogawa

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • ,
  • Kiyokazu Kawabe

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • ,
  • Gaku Yamanaka

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • ,
  • Tsuyoshi Matsumura

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • ,
  • Kanako Goto

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • ,
  • Ikuya Nonaka

      Affiliations

    • Japan National Center Hospital for Mental, Nervous, and Muscular Dystrophies, NCNP, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8551, Japan
    • ,
  • Ichizo Nishino

      Affiliations

    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan
    • ,
  • Yukiko K. Hayashi

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +81-42-341-2711; fax: +81-42-346-1742.
    • Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan

Received 4 December 2002 ,Revised 30 January 2003 ,Accepted 3 February 2003.

References 

  1. Liu J, Aoki M, Illa I, et al.  Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat. Genet. 1998;20:31–36
  2. Bashir R, Britton S, Strachan T, et al.  A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 1998;20:37–42
  3. Illa I, Serrano-Munuera C, Gallardo E, et al.  Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann. Neurol. 2001;49:130–134
  4. Britton S, Freeman T, Vafiadaki E, et al.  The third human FER-1-like protein is highly similar to dysferlin. Genomics. 2000;68:313–321
  5. Nalefski EA, Falke JJ. The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci. 1996;5:2375–2390
  6. Rizo J, Sudhof TC. C2-domains, structure and function of a universal Ca2+-binding domain. J. Biol. Chem. 1998;273:15879–15882
  7. Matsuda C, Aoki M, Hayashi YK, Ho MF, Arahata K, Brown RH. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology. 1999;53:1119–1122
  8. Anderson LV, Davison K, Moss JA, et al.  Dysferlin is a plasma membrane protein and is expressed early in human development. Hum. Mol. Genet. 1999;8:855–861
  9. Anderson LV, Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am. J. Pathol. 1999;154:1017–1022
  10. Hayashi YK, Ogawa M, Tagawa K, et al.  Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001;57:115–121
  11. Anderson LV, Davison K, Moss JA, et al.  Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. Am. J. Pathol. 1998;153:1169–1179
  12. Chae J, Minami N, Jin Y, et al.  Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy. Neuromuscular Disord. 2001;11:547–555
  13. Matsuda C, Hayashi YK, Ogawa M, et al.  The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum. Mol. Genet. 2001;10:1761–1766
  14. Rowin J, Meriggioli MN, Cochran EJ, Sanders DB. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromuscular Disord. 1999;9:417–420
  15. McNally EM, Ly CT, Rosenmann H, et al.  Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am. J. Med. Genet. 2000;91:305–312
  16. Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH, Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology. 2001;57:2136–2138
  17. Weiler T, Bashir R, Anderson LV, et al.  Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum. Mol. Genet. 1999;8:871–877
  18. Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al.  Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology. 2000;55:1931–1933
  19. Nakagawa M, Matsuzaki T, Suehara M, et al.  Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. J. Neurol. Sci. 2001;184:15–19
  20. Linssen WH, de Visser M, Notermans NC, et al.  Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromuscular Disord. 1998;8:317–320

PII: S0022-510X(03)00041-8

doi: 10.1016/S0022-510X(03)00041-8

Journal of the Neurological Sciences
Volume 211, Issue 1 , Pages 23-28 , 15 July 2003

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