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Genetic approach in Japanese patients with retinitis pigmentosa

Research Project

Project/Area Number 04454437
Research Category

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

Allocation TypeSingle-year Grants
Research Field Ophthalmology
Research InstitutionCHIBA UNIVERSITY

Principal Investigator

ADACHI Emiko  Chiba University School of Medicine Professor, 医学部, 教授 (60009496)

Co-Investigator(Kenkyū-buntansha) TSUYAMA Yoshihiko  Chiba University School of Medicine Assistant, 医学部, 助手 (50210571)
UEDA Masahiro  Chiba University School of Medicine Assistant, 医学部, 助手 (70193810)
MURAYAMA Koichiro  Chiba University School of Medicine Associate Professor, 医学部, 講師 (00219891)
KAN-NO Masamoto  Chiba University School of Medicine Associate Professor, 医学部, 助教授 (40161393)
KIMURA Tsuyoshi  Chiba University School of Medicine Associate Professor, 医学部, 助教授 (80003391)
Project Period (FY) 1992 – 1994
Project Status Completed (Fiscal Year 1994)
Budget Amount *help
¥5,800,000 (Direct Cost: ¥5,800,000)
Fiscal Year 1994: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1993: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1992: ¥3,500,000 (Direct Cost: ¥3,500,000)
KeywordsRhodopsin-gene / Retinitis pigmentosa / Peripherin-gene / Electroretinogram / Gene analysis / Fluorescein angiography / Sodium iodide
Research Abstract

We performed firstly the analysis of the rhodopsin gene from patients with a form of autosoma dominant retinitis pigmentosa. Since the rhodopsin-gene has 5 exons, each of them was separately amplified with the use of a PCR method and DNA sequence determination was done. In order to study a number of patients, screening study was done with a SSCP method as well as a PCR method Besides, sequential method was used to obtain more secure informations.
We found some polymorphic changes of the gene near the exon of the rhodopsin gene. However the families we investigated showed no mutation on the rhodopsin gene which linked to the disease. Then, we studied four exons of the peripherin-gene with a SSCP method and could not fined the abnormality in electrophoresis. We are still going on to do the same analysis in other families with autosomal dominant retinitis pigmentosa*. On the other hand, classification of retinitis pigmentosa based on clinical features let the gene analysis of these patient … More s easier and be helpful, especially in cases whose heredities are unknown. Together with subjective symptoms such as dark adaptation visual fields, visual acuities and fundus appearance with the aid of fluorescein angiography electrophysiological study was expected to give further precious information of the disease.
In order to know the pathological and physiological changes of the retina with pigmentary degeneration, we made experimentally retinal pigmentary degeneration in mice by injecting sodiun*iodide. The retina was electrophysiologically (electroretinogram) and electron-microscopically studied under several conditions such as light-damaged, toxically invaded and others. Besides, the neuro*transmitter-activities, especially glutamates of the retina was studied combining immunochemica approaches.
The results obtained from the experimentally induced retina showed functional and histopathologica* abnormalities which will provide to understand the unclarified abnormal function of retiniti*pigmentosa. Less

Report

(4 results)
  • 1994 Annual Research Report   Final Research Report Summary
  • 1993 Annual Research Report
  • 1992 Annual Research Report
  • Research Products

    (14 results)

All Other

All Publications (14 results)

  • [Publications] Yoko Takatsuna: "Distribution of phosphate-activated glutaminase-like immunoriactivity in the retina of rodents" Current Eye Research. 31. 629-637 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] Hiroyuki Ikeda: "Electrophysiological Studies on light Damage in the Mouse Retina after Sodium lodate lssjection" Ophthalmologica. 208. 220-225 (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] M.Hayakawa,E.Adachi: "A Multicenter study of typical rettnitis pigmentosa in Japan" Japanese Journal of Ophthalmology. 37. 156-164 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 宗像 紳: "筋緊張性ジストロフィーの視機能に関する電気生理学的検討" 眼科臨床医報. 87. 983-988 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 池田 博之: "マウス網膜電図における光曝露の影響-NaIO_3投与群と非投与群の比較-" あたらしい眼科. 10. 771-774 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 水野谷 智: "Scotopic VECPの臨床応用" 日本眼科紀要. 44. 645-650 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] J.Yotsukura: "Correlation of electroretinographic changes with usual prognosis in central retinal artery occlusion" Ophthalmologica. 207. 13-18 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] L.Hosoda: "Early effects of sodium iodate injection on ERG in mice" Acta Ophthalmologica. 71. 616-622 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Y.Tsuyama: "A case of Koarns-Shy syndrome with later onset" Ophthalmologica. 206. 149-151 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] 黒川 真理: "定型網膜色素変性症の視野に関する検討" 臨床眼科. 46. 1703-1708 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 早川 むつ子: "原発性定型網膜色素変性の遺伝的異質性と予後に関する18施設調査" 臨床眼科. 46. 1025-1029 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] E Adachi-Usami: "Transient lncrease of b-wave in the mouse retina after sodium iodate injection" Inverstigalive Ophthalmology & Visual Science. 33. 3109-3113 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 藤木 慶子: "我が国における定型網膜色素変性症の遺伝疫学的解析" 日本眼科学会雑誌. 96. 225-230 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] 池田 博之: "ヨーソ酸ソーダ静注マウスの光曝露に対する電気生理学的検索" 日本眼科紀要. 43. 765-770 (1992)

    • Related Report
      1992 Annual Research Report

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Published: 1992-04-01   Modified: 2016-04-21  

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