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Development of a screening system for the pathogenesis of hereditary dominant diseases

Research Project

Project/Area Number 61870040
Research Category

Grant-in-Aid for Developmental Scientific Research

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionThe Tokyo Metropolitan Institute of Medical Science (1988)
National Center of Neurology and Psychiatry (1987)
The University of Tokyo (1986)

Principal Investigator

SUZUKI Yoshiyuki  The Tokyo Metropolitan Institute of Medical Science, 副所長 (90010389)

Co-Investigator(Kenkyū-buntansha) OSHIMA Akihiro  The Tokyo Metropolitan Institute of Medical Science, 主任研究員 (20203763)
SAKAKIHARA Yoich  Faculty of Medicine, The University of Tokyo, 助手 (10143463)
SAKURABA Hitoshi  The Tokyo Metropolitan Institute of Medical Science, 室長 (60114493)
床枝 康伸  東京大学, 医学部, 助手 (10172157)
宮下 俊之  東京大学, 医学部, 助手 (60174182)
大村 清  国立精神, 神経センター神経研究所疾病研究第5部, 室長 (70047348)
Project Period (FY) 1986 – 1988
Project Status Completed (Fiscal Year 1988)
Budget Amount *help
¥17,900,000 (Direct Cost: ¥17,900,000)
Fiscal Year 1988: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1987: ¥4,500,000 (Direct Cost: ¥4,500,000)
Fiscal Year 1986: ¥11,400,000 (Direct Cost: ¥11,400,000)
Keywordstwo-dimensional electrophoresis / hereditary dominant disease / fibroblast / 軟骨形成不全症 / 高速液体クロマトグラフィー / 二次元電気泳動法
Research Abstract

A rapid and reproducible method for screening of normal and mutant human skin fibroblast proteins was developed using high resolutional two-dimensional electrophoresis, silver staining, and digitizer-personal computer analysis. More than 300 spots were visualized on a gel. Iso-electric points were in the range of pH 3.5-7.5, and molecular weights from 10 to 150 kDa.
The 247 protein spots chosen for further statistic analysis in 12 normal control cell strains showed quantitative rariations of various degrees. Among them, 12 spots were found to have positional or remarkably quantitative variations. However, no definite variations among groups with different ages, sexes, or culture conditions. Mycoplasma infections was found to induce six new protein spots in fibroblasts without changes of other spots. No quantitative or quali-tative changes were found in several genetic diseases including von Recklinghausen disease, tuberous sclerosis, achondrogenesis and some lysosomal storage diseases by this method. How-ever, two new spots appeared in three cases of achondroplasia, one of the most common dominant diseases. The protein patterns were normal in the other four cases. Our present study revealed that a genetic heterogeneity may be present in achondroplasia and this screening system is useful for the study of hereditary dominant diseases in clinical laboratories.

Report

(3 results)
  • 1988 Annual Research Report   Final Research Report Summary
  • 1986 Annual Research Report
  • Research Products

    (21 results)

All Other

All Publications (21 results)

  • [Publications] Yang R-C;Tsuji.A;Suauki.Y: In prepatation.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yang R-C;Tsuji.A;Suzuki.Y: In preparation.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yang R-C,Tsuji.A;Suauki.Y: In Preparation.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Nanba.E;Tsuji.A;Omuka.K;Suzuki Y: Biocbem Biopbys Res Commun. 144. 138-142 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Tsuji.A;Suzuki Y: Anan Biochiem Biophys. 259. 234-240 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Nanba.E;Tsuji.A;Omura.K;Suzuki Y: Ham Gewet. 80. 329-332 (1988)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Kato.G;Suzuki.ed;Freys L,Dreybus H.Massarelli R: "Intracelin lan bindiy and transpest of lysosomol lnymes in human and bovine tissues.In Enzynus of lijd Metctolsm II" Plenum Press,New York, 771-778 (1986)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yang,R-C; Tsuji,A; Suzuki,Y: "Two-dimensional electrophoresis aided by personal computer analysis for screening of mutant proteins in inherited diseases"

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yang,R-C; Tsuji,A; Suzuki,Y: "Abnormal protein pattern revealed by two-dimensional electrophoresis in mycoplasma-infected human fibroblasts"

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yang,R-C; Tsuji,A; Suzuki,Y: "Two-dimensional electrophoretic protein patterns in achondroplasia"

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1988 Final Research Report Summary
  • [Publications] Yang R-C;Tsuji A;Suzuki Y: In preparation.

    • Related Report
      1988 Annual Research Report
  • [Publications] Yang R-C;Tsuji A;Suzuki Y: In preparation.

    • Related Report
      1988 Annual Research Report
  • [Publications] Yang R-C;Tsuji A;Suzuki Y: In preparation.

    • Related Report
      1988 Annual Research Report
  • [Publications] Nanba E;Tsuji A;Omura K;Suzuki Y: Biocleu Biophys Res Commun. 144. 138-142 (1987)

    • Related Report
      1988 Annual Research Report
  • [Publications] Tsuji A;Suzuki Y: Ardi Biochem Biophys. 259. 234-240 (1987)

    • Related Report
      1988 Annual Research Report
  • [Publications] Nanba E;Tsuji A;Omura K;Suzuki Y: Hum Gerut. 80. 329-332 (1988)

    • Related Report
      1988 Annual Research Report
  • [Publications] Kato G;Suzuki Y et;Freysz L,Dreyfus H,Massarelli R: "Intracellwlar binding and transport of lysosomal larymes in human and bovinetissues.In:Enrymes of Lipit Metabolism II" Plemum Press, 771-778 (1986)

    • Related Report
      1988 Annual Research Report
  • [Publications] Kato.G;Suzuki.Y: species Cell Biolegy Internashonal Rpent. 10. 75 (1986)

    • Related Report
      1986 Annual Research Report
  • [Publications] Mouiri,T.;Shimmoto M;Kasnya,J;Seuoo.H;Suzuki,Y.: Journal of Biodoicel Uiewisty. 261. 16270-16273 (1986)

    • Related Report
      1986 Annual Research Report
  • [Publications] Nanba,E;Tsuji,A;Omura,K.;Suzuki,Y.: Biodsenrical and Biopbysical Resachi Comusunicen'ses. (1987)

    • Related Report
      1986 Annual Research Report
  • [Publications] Kato,G.;Suzuki,Y: "Enzyiues of Lipid Metabolism" Plenum Pres,New York, 771-778 (1986)

    • Related Report
      1986 Annual Research Report

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Published: 1987-03-31   Modified: 2016-04-21  

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