• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Clinical Correlation of Ocular Findings and Molecular Abnormalities in Myopathy

Research Project

Project/Area Number 05807165
Research Category

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

Allocation TypeSingle-year Grants
Research Field Ophthalmology
Research InstitutionKagoshima University

Principal Investigator

ISASHIKI Yasushi  Kagoshima University Faculty of Medicine, Assistant Professor, 医学部, 助教授 (70168160)

Co-Investigator(Kenkyū-buntansha) NAKAGAWA Masanori  Kagoshima University Faculty of Medicine, Lecturer, 医学部・附属病院, 講師 (50198040)
Project Period (FY) 1993 – 1994
Project Status Completed (Fiscal Year 1994)
Budget Amount *help
¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 1994: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1993: ¥900,000 (Direct Cost: ¥900,000)
KeywordsMyopathy / Mitochondrial disorders / Myotonic dystrophy / Ocular findings / Molecular abnormalities
Research Abstract

We studied the ophthalmological and genetic aspects of mitochondrial diseases and myodddddddddddddddddtonic dystrophy, multisystem disorders that affect multiple organs including akeletal muscle, central nervous system, heart, ear and eye. 1. Disease-specific deletion or point mutation of mitochondrial DNA (mtDNA) has been clarified in many clinical entities of mitochondrial diseases, and we confirmed that the ocular manifestations, including chronic progressive external ophthalmoplegia, blephaloptosis, retinochoroidal degeneration and optic atrophy develop in association with either deletion or point mutation of mtDNA.2. Twenty cases out of 40 cases of bilateral optic neorupathy with unknown etiology showed mtDNA/np11778 mutation. Homology analysis of mtDNA sequence encompassing np11778 suggested that the relevant mutation may change the enzyme-substrate binding affinity, and coenzyme Q_<10> treatment gradually recoverd visual function in patients with Lever's hereditary optic neuropathy. 3. Additionally, mutation at np3243 was detected in two patients with diabetes mellitus without neurological symptoms, showing the phenotypic variability of mtDNA abnormalities. 4. Abnormal expansion of CTG-repeat of myotonin protein kinase gene was detected in 11 cases of myotonic dystrophy and showed various ocular manifestations, including cataract, retinochoroidal degeneration and external ophthalmoplegia. Molecular findings of CTG-repeat corresponded with 'anticipation' in one family with typical myotonic dystrophy.

Report

(3 results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • Research Products

    (29 results)

All Other

All Publications (29 results)

  • [Publications] Isashiki Y.,Ohba N.,Yanagita T.et al.: "Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families." Human Genetics. 95. 105-108 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 伊佐敷靖、中川正法: "ミトコンドリア異常症の眼症状" 治療学. 28. 37-39 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 伊佐敷靖、中川正法、山田博久 他: "ミトコンドリア異常症にみられる眼科的徴候と遺伝子異常" 日本眼科学会雑誌. 98. 3-12 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 中川正法、伊佐敷靖: "筋緊張性ジストロフィと網膜病変" 神経眼科. 10. 258-259 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 伊佐敷靖、大庭紀雄、宇都美幸: "レ-ベル病の症状固定期における呼吸鎖補完療法" 神経眼科. 10. 163-167 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y.,Ohba N.,Uto M.et al.: "Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes" Jpn J Ophthalmol. 37. 39-42 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 伊佐敷靖: "眼科診療プラクティス16(分担),筋緊張性ジストロフィ" 文光堂(印刷中), (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] 伊佐敷靖、中川正法: "眼科学大系Part J(分担),ミオパチーと眼" 中山書店, 115-128(14) (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y.: "Myotonic dystrophy" Practical Ophthalmology. 16 (in press). (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y., Ohba N., Yanagita T.et al.: "Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families." Human Genetics. 95. 105-108 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y., Nakagawa M.: "Ocular manifestations in mitochondrial disorders" Biomedicine & Therapeutics. 28. 37-39 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y., Nakagawa M., Yamada H., Miyata M: "Ocular manifestations in mitochondrial DNA DNA abnormalities" Journal of Japanese Ophthalmological Society. 98. 3-12 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Nakagawa M., Isashiki Y.: "Retinochoroidal abnormalities in myotonic dystrophy" Neuro-ophthalmology Japan. 10. 258-259 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y., Ohba N., Uto M.: "Systemic administration of idebenone to the optic atrophic stage of Leber's hereditary optic neuropathy" Neuro-ophthalmology Japan. 10. 163-167 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y., Ohba N., Uto M.et al.: "Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes" Jpn J Ophthalmol. 37. 39-42 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1994 Final Research Report Summary
  • [Publications] Isashiki Y.,Ohba N.,Yanagita T.et al.: "Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families." Human Genetics. 95. 105-108 (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 伊佐敷 靖、中川正法: "ミトコンドリア異常症の眼症状" 治療学. 28. 37-39 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 伊佐敷 靖、中川正法、山田博久 他: "ミトコンドリア異常症にみられる眼科的徴候と遺伝子異常" 日本眼科学会雑誌. 98. 3-12 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 中川正法、伊佐敷 靖: "筋緊張性ジストロフィと網膜病変" 神経眼科. 10. 258-259 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] 伊佐敷 靖、大庭紀雄、宇都美幸: "レ-ベル病の症状固定期における呼吸鎖補完療法" 神経眼科. 10. 163-167 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] Isashiki Y.,Ohba N.,Uto M.et al.: "Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes" Jpn J Ophthalmol. 37. 39-42 (1993)

    • Related Report
      1994 Annual Research Report
  • [Publications] 伊佐敷 靖: "眼科診療プラクティス16(分担),筋緊張性ジストロフィ" 文光堂(印刷中), (1995)

    • Related Report
      1994 Annual Research Report
  • [Publications] 伊佐敷 靖、中川正法: "眼科学大系Part J(分担),ミオパチーと眼" 中山書店, 115-128(14) (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 伊佐敷 靖、中川正法、山田博久 他: "ミトコンドリア異常症にみられる眼科的徴候と遺伝子異常" 日本眼科学会雑誌. 98. 3-12 (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] 松井淑江、斉藤伊三雄、伊佐敷 靖 他: "壮年期に発症したレーベル病の弧発症例" 神経眼科. 10. 275-280 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 中川正法、伊佐敷 靖: "筋緊張性ジストロフィと網膜病変" 神経眼科. 10. 258-259 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 伊佐敷 靖、大庭紀雄、宇都美幸: "レーベル病の症状固定期における呼吸鎖補完療法" 神経眼科. 10. 163-167 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Isashiki,Y.,Ohba,N.Uto,M.et al.: "Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes" Jpn J Ophtalmol. 37. 39-42 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 伊佐敷 靖、中川正法: "中山書店 (印刷中)" 眼科学大系(増田寛次郎、猪俣、孟、玉井 信、本田孔士 編集)Part J 全身疾患と眼(分担:ミオパチーと眼). (1994)

    • Related Report
      1993 Annual Research Report

URL: 

Published: 1993-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi