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1997 Fiscal Year Final Research Report Summary

ANALYSES OF MUSCLE CONSTRUCTIVE PROTEIN IN THE CASES WITH CHILDHOOD ONSET MUSCULAR DYSTROPHIES

Research Project

Project/Area Number 07670908
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTokyo Women's Medical College

Principal Investigator

IKEYA Kiyoko  Tokyo Women's Medical College, Dept.of Pediatrics, Assistant Professor, 医学部, 講師 (70151313)

Co-Investigator(Kenkyū-buntansha) MOMINE Satoshi  Tokyo Women's Medical College, Dept.of Pediatrics, Assistant, 医学部, 助手 (30225578)
SAITO Kayoko  Tokyo Women's Medical College, Dept.of Pediatrics, Associate Professor, 医学部, 助教授 (90138834)
Project Period (FY) 1995 – 1997
Keywordslimb-girdle type muscular dystrophy (LG) / sarcoglycanopathy / alpha-sarcoglycan / immunohistochemical analysis / PCR
Research Abstract

We analyzed 232 cases with neuromuscular disorders including 122 with muscular dystrophies. The details are as follows ; 25 with Duchenne type (DMD), 4 DMD carrier, 18 with Becker type (BMD), 25 with congenital type (CMD), 7 with facioscapulohumeral type (FSH) and 9 with limb-girdle type (LG). The diagnosis of DMD,DMD carrier and BMD was confirmed by immunohistochemical analyzes of dystrophin antibodies. alpha-sarcoglycan was analyzed immunohistochemically in eight clinically diagnosed LG cases and was found to be absent in one case.
The molecular analysis of alpha-sarcoglycan was performed in all nine LG cases and two unaffected family members of one case. The PCR primers were constructed in exon* of alpha-sarcoglycan, a mutational hot spot. In one of the nine patients, in whom no muscle tissue was available unfortunately, we found a mutation and direct sequencing analysis revealed one base substitution (C to T at nt.229). This patient was a homozygote for thismutation. The unaffected mother of this case carried the same mutation and the wild type chromosome, indicating that she was a heterozygote. This mutation was not found in the case in which alpha-sarcoglycan staining was absent.
From these results, we concluded that only two of our nine LG cases could be diagnosed as having sarcoglycanopathy. These cases show the following characteristic features : nomal motor development, very rapid progression, absence of mental retardation, slight facial muscle involvement, myalgia and greater involvement of flexor than extensor muscle neck.

  • Research Products

    (14 results)

All Other

All Publications (14 results)

  • [Publications] K.Ikeya et al.: "α-sarcoglycan analysis of limb-girdle type muscular dystrophy" Neutromuscular disorders. 7. 440-441 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 池谷 紀代子 ら: "肢帯型筋ジストロフィーにおけるα-sarcoglycan(α-SG)の検討" 脳と発達. 29. 426-426 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 池谷 紀代子 ら: "進行性に筋力低下を示した2症例" 小児神経学の進歩. 26. 43-55 (1997)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K.Ikeya et al.: "Clinical and immunocytochemical evaluation of muscular dystrophies" Abstructs of 6th Western Pacific Regional Conference of the Medical Women's International Association. 57-57 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 池谷 紀代子 ら: "福山型筋ジストロフィー胎児における骨格筋細胞構成蛋白の免疫組織学的検討" 脳と発達. 28 suppl. S329-S329 (1996)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 池谷 紀代子 ら: "ラット骨格筋組織におけるジストロフィン免疫組織染色性の死後変化" 東京女子医科大学総合研究所紀要. 15. 60-61 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 池谷 紀代子 ら: "小児期発症の筋ジストロフィーの骨格筋組織における細胞骨格蛋白の検討" 脳と発達. 27. S141-S141 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] K.ikeya et al.: "alpha-sarcoglycan analysis of limb-girdle type muscular dystrophy" Neuromuscular disorders. 7. 440-441 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ikeya et al.: "alpha-sarcoglycan (alpha-SG) analysis in cases with limb-girdle type muscular dystrophy" No to Hattatsu. 29 (in Japanese). 426 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ikeya et al.: "Two cases showing progressive muscle weakness" Shoni shinkeigaku no shinpo. 26 (in Japanese). 43-55 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ikeya et al.: "Clinical and immunocytochemical evaluation of muscular dystrophies" Abstructs of 6th Western Pacific Regional Conference of the Medical Women's International Association. 57 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ikeya et al.: "Immunohistochemical analysis of muscle constructive protein in Fukuyama muscular dystrophy cases" No to Hattatsu. 28 (suppl) (in Japanese). S329 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ikeya et al.: "Post mortal change of dystrophin immunostaining in rat skeletal muscle" Tokyojoshiikadaigaku sogokenkyusho kiyo. 15 (in Japanese). 60-61 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] K.Ikeya et al.: "Cytoskeletal protein analysis in skeletal muscles from patients with childhood onset muscular dystrophies" No to Hattatsu. 27 (in Japanese). S141 (1995)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1999-03-16  

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