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A study for diagnosis and pathophysiology in neuromuscular disorders due to mitochondrial enzyme defects

Research Project

Project/Area Number 61570397
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionNational Institute of Neuroscience,NCNP

Principal Investigator

NONAKA Ikuya  Division of Ultrastructural Research,National Institute of Nauroscience,NCNP, 神経研究所・微細構造研究部, 部長 (80040210)

Co-Investigator(Kenkyū-buntansha) KIKUCHI Aiko  Division of Ultrastructural Research,National Institute of Nauroscience,NCNP, 神経センター神経研究所・微細構造研究部, 研究員 (70159010)
AIKAWA Hisashi  Division of Ultrastructural Research,National Institute of Nauroscience,NCNP, 神経センター神経研究所・微細構造研究部, 室長 (30184013)
Project Period (FY) 1986 – 1987
Project Status Completed (Fiscal Year 1987)
Budget Amount *help
¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 1987: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1986: ¥1,800,000 (Direct Cost: ¥1,800,000)
KeywordsMitochondrial myopathy / Derect in electron transport system / Muscle biopsy / 筋病理
Research Abstract

To confirm the presence of mitochondrial disorders,histochemical and biochemical examinations were performed on biopsied muscles from patients with increased serm lactate and pyruvate levels,and progressive neurological symptoms.From the present study,various enzyme defects were identified including 36 patients with cytochrome c oxidase (CCO) deficiency (2 patients; fatal infantile,2; bening infantile,12; encephalomyopathic,20; focal deficient form),and 13 complex I deficiency.In the encephalomyopathic CCO deficiency,the ragged-red fibers reflecting an abnormally proliterated mitochondria in the sarcoplasm were seen in 5 of 12 muscles mostly in patients more than 6 years of age.Muscle spindles and blood vessel walls in the biopsied muscles from 3 patients with rapid clinical aggravation had no CCO activity,suggesting that enzyme activity differed from tissue to tissue (tissue specificity). The tissue specificity was also confirmed an in vitro study using cultured muscle specimens and skin fibroblasts.In addition, four patients who had multiple muscle biopsies at several year intervals showed variability in the activity of respiratory chain enzymes.
The blooc vessels in the biopsied muscles from 7 patients with complex I deficiency with clinical character istics of MELAS (mitochondrial myopathy, encephalopathy,lactic acidosis and stroke-like episodes) showed striking abnormalities in blood vessels.Enlarged mitochondria with complicated cristae were increased in number in the pericytes of capillaries,endothelial cells and smooth muscle cells of the small arteries including terminal arterioles and precapillary shincters,predominantly in the smooth muscle cells.

Report

(2 results)
  • 1987 Final Research Report Summary
  • 1986 Annual Research Report
  • Research Products

    (16 results)

All Other

All Publications (16 results)

  • [Publications] 埜中征哉: 脳と発達. 19. 110-117 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] 埜中征哉,古賀靖敏,山本雅彦: 神経研究の進歩. 31. 624-633 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Chung SJ;Nonaka I: J Neurol Sci. 83. 269-282 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Sakuta R;Nonaka I: Ann Neurol.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Koga Y;Nonaka I;et al.: Acta Neuropathol.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Nonaka I;et al.: Brain Develop.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Nonaka I: "Pathology of mitochondrial cytopathy" Brain & Develop.(Domestic Edition). 19. 110-117 (1987)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Nonaka I, Koga Y, Yamamoto M: "Muscle Pathology in mitochondrial encephalomyopathies" Adv Neurol. 31. 624-633 (1987)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Chung SJ, Nonaka I: "A morphometric study of muscle mitochondria in cytochrome c oxidase dificiency" J Neurol. 83. 269-282 (1988)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Sakuta R, Nonaka I: "Vascular involvement in complex I deficiency with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes" Ann Neurol.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Koga Y, Nonaka I, et al: "Variability in the activity of respiratory chain enzymes in mitochondrial myopaties" Acta Neuropathol.

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] 埜中征哉: 神経内科. 24. 117-124 (1986)

    • Related Report
      1986 Annual Research Report
  • [Publications] 埜中征哉: 脳と発達. 19. 110-117 (1987)

    • Related Report
      1986 Annual Research Report
  • [Publications] Chung SJ;Nonaka I,et al.: Brain Dev.

    • Related Report
      1986 Annual Research Report
  • [Publications] 埜中征哉,古賀靖敏,山本雅彦: 神経研究の進歩.

    • Related Report
      1986 Annual Research Report
  • [Publications] Koga Y;Nonaka I,et al.: Neurology.

    • Related Report
      1986 Annual Research Report

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Published: 1987-03-31   Modified: 2016-04-21  

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