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

Study of theretinal ganglion cell specific gene, optic atrophy, and gene threrapy

Research Project

Project/Area Number 12470368
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionKeio University

Principal Investigator

MASHIMA Yukihiko  School of Medicine, Keio University, Associate professor, 医学部, 助教授 (40157186)

Co-Investigator(Kenkyū-buntansha) KUDOH Jun  School of Medicine, Keio University, Assistant professor, 医学部, 講師 (80178003)
OHTAKE Yuichirou  School of Medicine, Keio University, Assistant professor, 医学部, 助手 (30233159)
KUROSAKA Daijirou  School of Medicine, Keio University, Assistant professor, 医学部, 講師 (20215099)
IWATA Takeshi  Tokyo Medical Center, Chief Investigator, 主任研究員
高柳 淳  慶應義塾大学, 医学部, 助手 (80245464)
Project Period (FY) 2000 – 2001
Project Status Completed (Fiscal Year 2001)
Budget Amount *help
¥15,500,000 (Direct Cost: ¥15,500,000)
Fiscal Year 2001: ¥7,500,000 (Direct Cost: ¥7,500,000)
Fiscal Year 2000: ¥8,000,000 (Direct Cost: ¥8,000,000)
Keywordsretinal ganglion cell / promotor / mause amine oxidase / Leber's disease / idebenone / human amine oxidase / ベクター
Research Abstract

Mouse homologue of AOC2 was cloned for haracterization. Real-time quantitative PCR and in situ hybridization were performed to determine specific expression of AOC2 in mouse retina, especially in retinal ganglion cells. The copper-binding motif and the enzyme active site of AOC1 and AOC3 were both preserved in mouse AOC2 protein. Mouse AOC2 gene was located 1,526 bp downstream of Psme3 gene for PA-28 gamma-subunit and 775 bp upstream of AOC3 gene. We have plan to construct the vector that can particularly transport some gene into ganglion cells.
Visual recovery and its characteristics were investigated in patients with Leber's hereditary optic neuropathy (LHON) developed in teens. Fourteen patients who had the 11778 mutation were included in this study. The averaged age of onset of the disease was 14.8 years. Six of 14 patients were treated with idebenone and vitamins B2 and C. Seven of the 14 LHON patients (11 of 28 eyes) showed a visual recovery between 0.3 and 1.0, and fenestrated central scotomas by the Humphrey 10-2 threshold. Five of the 7 patients were treated with medicines. The nasal side of the central visual fields showed a greater sensitivity than the temporal side in 10 of the 11 eyes. Nerve fiber bundles other than the papillomacular bundles may have a greater potential to recover function in patients with LHON.

Report

(3 results)
  • 2001 Annual Research Report   Final Research Report Summary
  • 2000 Annual Research Report
  • Research Products

    (6 results)

All Other

All Publications (6 results)

  • [Publications] 山田恵子, 真島行彦, 緋田芳樹, 小口芳久: "慶應義塾大学病院におけるレーベル遺伝性視神経症の遺伝子診断の現状"日本眼科学会雑誌. 105. 608-613 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Mashima Y, Sato EA, Oguchi Y: "Detection of fonestrated central scotoma by scanning laser ophthalanoscopc microperimcery in a patient with Leber's hereditary optic neuropathy after visual recovery"Neuro-ophthalmology. 25. 115-121 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Mashima Y, Sato EA, Oguchi Y: "Detection of fenestrated central scotoma by scanning laser ophthalmoscope microperimetry in a patient with Leber's hereditary optic neuropathy after visual recovery"Neuro-ophthalmology. 25 (3). 115-121 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] Yamada K, Mashima Y, Hiida Y, Oguchi Y: "DNA diagnosis of Leber's hereditary optic neuropathy performed at Keio University hospital"Journal of Japanese Ophthalmological Society. 105 (9). 608-613 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2001 Final Research Report Summary
  • [Publications] 山田恵子, 真島行彦, 緋田芳樹, 小口芳久: "慶慮義塾大学病院におけるレーベル遺伝性視神経症の遺伝子診断の現状"日本眼科学会雑誌. 105(9). 608-613 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Mashima Y, Sato EA, Oguchi Y: "Detection of fenestrated central scotoma by scanning laser ophthalmoscope microperimetry in a patient with Leber's hereditary optic neuropathy after visual recovery"Neuro-ophthalmology. 25(3). 115-121 (2001)

    • Related Report
      2001 Annual Research Report

URL: 

Published: 2000-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi