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1994 Fiscal Year Final Research Report Summary

Moleculer cell biological and clinical study of hereditary optic neuropathy

Research Project

Project/Area Number 04454447
Research Category

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

Allocation TypeSingle-year Grants
Research Field Ophthalmology
Research InstitutionKeio University

Principal Investigator

OGUCHI Yoshihisa  Keio Univ, Medicine, Professor, 医学部, 教授 (70051498)

Co-Investigator(Kenkyū-buntansha) IDEI Takeshi  Keio Univ, Medicine, Instructor, 医学部, 助手 (90223130)
SAGA Masamichi  Keio Univ, Medicine, Instructor, 医学部, 助手 (00245557)
SUZUKI Saburosuke  Keio Univ, Medicine, Assist Professor, 医学部, 講師 (40162945)
KATSURA Hiroshi  Keio Univ, Medicine, Assist Professor, 医学部, 講師 (40129391)
MASHIMA Yukihiko  Keio Univ, Medicine, Assist Professor, 医学部, 講師 (40157186)
Project Period (FY) 1992 – 1994
KeywordsLeber disease / Mitochondrial DNA / Heterplasmy / 11778 mutation / MRI / VEP / Idebenone
Research Abstract

Japanese patients with Leber's hereditary optic neuropathy(LHON)were investigated as to the genotype of mtDNA mutations.The 11778 mutation were identified in 47 pedigrees, the 14484 mutation in 4 pedigrees, and the 3460 in 3 pedigrees. In Japan, the 11778 mutation was prevalent in LHON patients, which is different from the Caucasian patients. Molecular testing of mtDNA is effective for diagnosis of LHON.Heteroplasmy was found 5 of the 36 pedigrees with the 11778 mutation tested. We develped a new application of quantification of heteroplasmy by PCR-SSCP analysis and individuals wiht less than 60% of mutant mtDNA are probably at lesser risk for developing the disease. The clinical characteristics of the three genotype were similar to those of Caucasian patients. Patients with the 14484 mutation have a high frequency of visual recovery. Yhe results of flash VEP and MRI study revealed that pathogenesis of the optic nerve in the acute stage of LHON was different from that of optic neuritis. Concerning treatment of LHON,there is no effective therapy. However, one young parient recovered vision after treatment with this medicine. Idebenone is one of candidate medicines to be appled for the patients.

  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] Mashima Y,Hiida Y,Oguchi Y: "Remission of Leber´s hereditary optic neuro-pathy with idebenone." Lancet. 340. 368-369 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mashima Y,Hiida Y,Oguchi Y,Kudoh J,Shimizu N: "High mutation frequency at position 11778 in mitochondrial ND4 gene in Japanese families with Leber´s hereditary optic neuropathy." Hum Genet. 92. 101-102 (1993)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mashima Y,Hiida Y,Oguchi Y,Kudoh J,Shimizu N: "DNA diagnosis of Leber´s hereditary optic neuropathy using dried blood specimens." Am J Ophthalmol. 116. 773-774 (1993)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 篠田啓、緋田芳樹、真島行彦、小口芳久: "ミトコンドリアDNAのnt11778遺伝子変異をもつレ-ベル視神経症16家系の臨床所見" 臨床眼科. 47. 1727-1730 (1993)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mashima Y,Saga M,Hiida Y,Oguchi Y,Kudoh J,Shimizu N: "Risk of false-positive DNA diagnosis of Leber´s hereditary optic neuropathy." Am J Ophthalmol. 119. 245-246 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mashima Y,Saga M,Hiida Y,Oguchi Y,Kudoh J,Shimizu N: "Ouantitative determination of heteroplasmy in Leber´s hereditary optic neuropathy by single-strand conformation polymorphism." Invest Ophthalmol Vis Sci. (in press). (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 小口芳久: "Leber病・臨床DNA診断" 金原(印刷中), (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Mashima Y,Hiida Y,Oguchi Y: "Remission of Leber's hereditary optic neuropathy with idebenone." Lancet. 340. 368-369 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mashima Y,Hiida Y,Oguchi Y, Kudoh J,Shimizu N: "High mutation frequency at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy." Hum Gent. 92. 101-102 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mashima Y,Hiida Y,Oquchi Y,Kudoh J,Shimizu N: "DNA diagnosis of Leber's hereditary optic neuropathy using dried blood specimens." Am J Ophthalmol. 116. 773-774 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mashima Y,Saga M,Hiida Y,Oguchi Y,Kudon J,Shimizu N: "Risk of false-positive DNA diagnosis of Leber's hereditary optic neuropathy." Am J Ophthalmol. 119. 245-246 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Mashima Y,Saga M,Hiida Y,Oguchi Y,Kudoh J,Shimizu N: "Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism." Invest Ophthalmol Vis Sci. (in press). (1995)

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

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Published: 1996-04-15  

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