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Research for transgenic mouse of retinitis pigmentosa with vitamin E deficiency

Research Project

Project/Area Number 09671788
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionTokyo Medical and Dental University

Principal Investigator

INABA Akira (1999)  Tokyo Medical and Dental University, Department of Medical Laboratory, Research Associate, 医学部, 助手 (10282766)

横田 隆徳 (1997-1998)  東京医科歯科大学, 医学部, 助手 (90231688)

Co-Investigator(Kenkyū-buntansha) MIZUSAWA Hidehiro  Tokyo Medical and Dental University, Department of Neurology, Professor, 医学部, 教授 (30144091)
INOUE Keizo  University of Tokyo, Department of Health Chemistry, Professor, 薬学部, 教授 (30072937)
UCHIHARA Toshiki  Department of Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Research Associate, 東京都神経科学総合研究所・神経病理学部門, 主任研究員 (10223570)
SAITO Yukinobu  Tokyo Medical and Dental University, Department of Neurology, Research Associate, 医学部, 助手 (80302842)
KIYOSAWA Motohiro  Tokyo Medical and Dental University, Department of Ophthalmology, Assistant Professor, 医学部, 助教授 (20169957)
稲葉 彰  東京医科歯科大学, 医学部, 助手 (10282766)
Project Period (FY) 1997 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥3,800,000 (Direct Cost: ¥3,800,000)
Fiscal Year 1999: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1998: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1997: ¥2,400,000 (Direct Cost: ¥2,400,000)
Keywordsα-tocopherol / knockout mouse / vitamin E / retinitis pigmentosa / spinocerebellar degeneration / Bergmann glia / posterior column / Purkinje cell / α-トコフェロール / αTTP / Friedriech失調症 / 脊髄小脳変異症
Research Abstract

1) Alpha-tocopherol transfer protein knockout mouse
We finished making mouse in which alpha-tocopherol transfer protein gene was deleted. Now, we are investigating pathology of central nervous system, retina, and their functions using somatosensory evoked potentials and retinograms.
2) Distribution of alpha-tocopherol transfer protein
We identify the expression of alpha-tocopherol transfer protein in retina, cerebellum, spinal cord by Northern blot. Furthermore in situ hybridization technique demonstrated that the local expression of the protein in the Bergmann glia in cerebellum. There was no expression in dorsal root ganglia, or peripheral nervous system.
3) Investigation on autopsy of patient with mutant alpha-tocopherol transfer protein gene
The major pathological findings were retinal atrophy ; severe degeneration of the dying back-type in the posterior column ; and massive accumulation of ceroid-lipofuscin in neurons including dorsal root ganglion (DRG) cells. In addition, mild loss of Purkinje cells was noted. In the DRG, thought to be mainly responsible for ataxia, no expression of alpha-tocopherol transfer protein was detected, and the tissue concentration of vitamin E increased to normal after supplementation. We therefore concluded that oral supplementation of vitamin E should effectively counteract the progression of ataxia.

Report

(4 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • 1997 Annual Research Report
  • Research Products

    (19 results)

All Other

All Publications (19 results)

  • [Publications] Yokota T et al.: "Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of alpa-tocopherol transfer gene"Annals of Neurology. 41. 826-832 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Hosomi A et al.: "Localization of alpa-tocopherol transfer protein in rat"Neuroscience Letter. 256. 159-162 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Shiojiri T et al.: "Familial spinocerebellar syndrome with isolated Vitamin E deficiency not due to mutation of alpa-tocopherol transfer protein"Journal of Neurology. 246. 982 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yokota T et al.: "Autopsy of ataxia and retinitis pigmentosa caused by the His101Gln mutation of alpa-tocopherol transfer protein"Journal of Neurology, Neurosurgery and Psychiatry. (印刷中).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 横田隆徳、水澤英洋: "Alpa-tocopherol transfer protein 遺伝子変異による網膜色素変性症を伴うFriedreich型運動失調症"Neurological Science. 5. 14-15 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 横田隆徳: "Alpa-tocopherol 転移蛋白遺伝子異常によるビタミンE欠乏清脊髄小脳変性症"医学のあゆみ. 182. 218-219 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 横田隆徳: "ビタミン欠乏による神経障害"脳の科学. 20. 893-897 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 横田隆徳: "α-tocopherol 転移蛋白遺伝子変異によるFriedreich型運動失調症"神経内科. 48. 229-236 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yokota T, Shiojiri T, Gotoda T, Arita M, Arai H, Ohga T, Kanda T, Suzuki J, Imai T, Matsumoto H, Harino S, Kiyosawa M, Mizusawa H, Inoue K: "Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the α-tocopherol transfer protein age"Ann Neurol. 41. 826-832 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Hosomi A, Goto K, Kondo H, Iwatsubo T, Yokota T, Ogawa M, Arita M, Arai H. Inoue K: "Localization of a-Tocopherol Transfer Protein in Rat."Neurosci Lett. 256. 159-162 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Shiojiri T, Yokota T, Aoki K, Fujimori N, Mizusawa H.: "Familial spinocerebellar syndrome with isolated vitamin E deficiency not due to mutation of α-tocopherol transfer protein."J Neurol. 246. 982 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yokota Y, Uchihara T, Kumgai J, Shiojiri T, Kiyosawa M, Pang JJ, Arita M, Arai H, Oketa R, Mizusawa H: "Autopsy of Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the α-tocopherol transfer protein."J Neurol Neurosci Psychiatry. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Shiojiri T et al: "Familial spinocerebellar syndrome with isolated Vitamin E deficiency not due to mutation of alpa-tocopherol transfer protein"Journal of Neurology. 246. 982 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Yokota T et al: "Autopsy of ataxia retinitis pigmentosa caused by the His101Gln mutation of alpa-tocopherol transfer protein"Journal of Neurology Neurosurgery and Psychiatry. (印刷中).

    • Related Report
      1999 Annual Research Report
  • [Publications] 横田隆徳: "ビタミンE欠乏による神経障害" 脳の科学. 20. 893-897 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 横田隆徳: "α-トコフェロール転移タンパク遺伝子変異によるFriedreich型運動失調症" 神経内科. 48. 229-236 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Yakota T, et al: "Friedrich-like ataxia with Retinitis pigmentosa caused by the His101Gln niutation of α-TocojLevol transtor protein gene" Annds of Neurology. 41. 826-832 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 横田隆徳: "α-tocopherol転移蛋白遺伝子変異による網膜色素変性症を伴うFriedreich型運動失調症" 医学のあゆみ. 182. 218-219 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 横田隆徳, 水澤英洋: "α-tocopherol転移蛋白遺伝子変更による網膜色素変性症を伴うFriedreich型運動失調症" Current Insights in Neurologica Science. 5. 14-15 (1997)

    • Related Report
      1997 Annual Research Report

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Published: 1997-04-01   Modified: 2016-04-21  

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