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A molecular biologic study on pathogenesis of neuromuscular diseases with mitochondrial enzyme defects

Research Project

Project/Area Number 63570374
Research Category

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

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionNational Center of Neurology and Psychiatry (NCNP)

Principal Investigator

NONAKA Ikuya  Same as above, Division of Ultrastructural Research Head, 神経研究所・微細構造研究部, 部長 (80040210)

Co-Investigator(Kenkyū-buntansha) KIKUCHI Aiko  Same as above, Researcher, 神経センター神経研究所・微細構造研究部, 研究員 (70159010)
AIKAWA Hisashi  Same as above, Section chief, 神経センター神経研究所・微細構造研究部, 室長 (30184013)
Project Period (FY) 1988 – 1989
Project Status Completed (Fiscal Year 1989)
Budget Amount *help
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1989: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1988: ¥1,500,000 (Direct Cost: ¥1,500,000)
KeywordsMitochondrial myopathies / Mitochondrial DNA / Chronic Progressive Ophthalmoplegia / Focal Complex IV Deficiency / Neuromuscular Diseases / ミトコンドリア脳筋症 / 組織培養
Research Abstract

Histochemical, biochemical and molecular analyses are necessary to get a definite diagnosis of mitochondrial disorders. On examination of 211 patients with clinical diagnosis of mitochondrial diseases, 145 (68.7%) muscles were confirmed to have primary defect in mitochondria. Among them, the commonest defect was in the mitochondrial electron transport system, especially in complex IV (cytochrome c oxidase).
Mitochondrial DNA (mtDNA) abnormalities were seen in 27 of 40 patients with chronic progressive external ophthalmoplegia (CPEO), but none with other mitochondrial encephalomyopathies. The size and site of deleted mtDNA differed from patient to patient. on sequence analysis at the deleted sites, most of mtDNA showed similar repeated sequences (direct repeat) which might induce 'slipped misparing' resulting in mtDNA deletions. Although there was no close correlation between clinical severity and mtDNA abnormalities in their site and length of deletion, patients with a large number of fibers with focal cytochrome c oxidase deficiency tended to have high populations of deleted mtDNA in biopsied muscles.

Report

(3 results)
  • 1989 Annual Research Report   Final Research Report Summary
  • 1988 Annual Research Report
  • Research Products

    (20 results)

All Other

All Publications (20 results)

  • [Publications] Nonaka I,Koga Y,Ohtaki E,Yamamoto M: "Tissue specificity in cytochrome c oxidase deficient myopathy." J Neurol Sci. 92. 193-202 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Nonaka I,Koga Y,Kikuchi A,Goto Y: "Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency.Tissue specificity studied by muscle culture" J Neurol Sci.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Koga Y,Nonaka I,Nakao M,et al: "Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy" J Neurol Sci. 95. 63-76 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Matsuoka T,Goto Y,Hasegawa H,Nonaka I: "Different morphogenesis of focal cytochrome c oxidase deficiency in CPEO and MERRF" Ann Neurol.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Yamamoto M,Akiyama C,Aikawa H: "D-penicillamine-induced copper deficiency in suckling mice;Neurological abnormalities and brain mitochondrial enzyme activities" Dev Brain Res.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Goto Y,Koga Y,Horai S,Nonaka I: "Chronic progressive external ophthalmoplegia;A correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies" J Neurol Sci.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] 檜澤一夫,埜中征哉,小沢えい二郎: "筋病理学" 文光堂, 480 (1989)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1989 Final Research Report Summary
  • [Publications] Nonaka I,Koga Y,Ohtaki E,Yamamoto M: "Tissue specificity in cytochrome c oxidase deficient myopathy" Journal of the Neurological Sciences. 92. 193-203 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Nonaka I,Ishiura S,Arahata K,Ishibashi H,Maruyama T,Ii K: "Progression in nemaline myopathy" Acta Neuropathologica. 78. 484-491 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Shimomura C,Nonaka I: "Nemaline myopathy:Comparative histochemistry in the severe neonatal,moderate congenital and adultーonset forms." Pediatric Neurology. 5. 25-31 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Sakuta R,Nonaka I: "Vascular involvement in in mitochondrial myopathy" Annals of Neurology. 25. 594-601 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Yamamoto M,Koga Y,Ohtaki E,Nonaka I: "Focal cytochrome c oxidase deficiency in various neuromuscular diseases" Journal of the Neurological Sciences. 91. 207-213 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Komiyama A,Nonaka I,Hirayama K: "Muscle pathology in MarinescoーSjogren syndrome" Journal of the Neurological Sciences. 89. 103-113 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] 桧澤一夫,埜中征哉,小沢えい二郎: "筋病理学" 文光堂, 480 (1989)

    • Related Report
      1989 Annual Research Report
  • [Publications] Nonaka,I,;Koga.Y,;Okino.E,;Kikuchi.A,;Fujisawa.K,;Miyabayashi.S.: Brain & Development. 10. 223-230 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] Nonaka.I,;Koga.Y,;Shikura.K,;Kobayashi.M,;Sugiyama.N,;Okino.E,;Nihei.K,;Toji.M,;Segawa.M.: Acta Neuropathol. 77. 152-160 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] Nonaka.I,;Koga.Y,;Ohtaki.E,;Yamamoto.M.: J Neurol Sci.

    • Related Report
      1988 Annual Research Report
  • [Publications] Koga.Y,;Nonaka.I.;Kobayashi.M,;Tojo.M,;Nihei.K.: Ann Neurol. 24. 749-756 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] Sakuta.R,;Nonaka.I.: Ann Neurol.

    • Related Report
      1988 Annual Research Report
  • [Publications] Yamamoto.M.;Nonaka.I.: Acta Neuropathol. 76. 558-563 (1988)

    • Related Report
      1988 Annual Research Report

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Published: 1988-04-01   Modified: 2016-04-21  

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