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GENETIC STUDY OF A CHILDHOOD DISEASE AFFECTNG INTRACELLULAR CHOLESTEROL TRANSPORT

Research Project

Project/Area Number 04670597
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTOTTORI UNIVERSITY

Principal Investigator

OHNO Kousaku  Tottori University Faculty of medicine, Department of Neurobiology, Professor, 医学部, 教授 (70112109)

Co-Investigator(Kenkyū-buntansha) AKABOSHI Shinjiro  Tottori University Hospital, Division of Child Neurology, Lecturer, 医学部・附属病院, 助手 (90231810)
NANBA Eiji  Tottori University Hospital, Division of Child Neurology, Assitant Professor, 医学部・附属病院, 講師 (40237631)
Project Period (FY) 1992 – 1993
Project Status Completed (Fiscal Year 1993)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1993: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1992: ¥1,000,000 (Direct Cost: ¥1,000,000)
KeywordsNiemann-Pick Desease / cholesterol transport / selectable markers / gene cloning / immotalized cell / 細胞内転送 / 染色体マッピング
Research Abstract

Basic defectin type C Niemann-Pick disease is unknown. As an attempt to isolate the gene defectivein type C Niemann-Pick Disease, we have established an immortalized 3T3 cell line from sphingomelinosis mouse and found the cells show the same abnormalitis found in fibroblasts from patients with type C Niemann-Pick disease. In course of studies to characterizecholesterol metabolism in type C Niemann-Pick disease, we have fund fibroblasts from the patients have an increasedde novo pathway of cholesterol biosynthesis. When cells ara exposed to cholesterol biosynthetic inhibitors, they showed abnormal sensitivities. They showed marked hypersensitivity to cytotoxic effect of vitamin D3. The drug should be very useful to enrich and isolate a few cells restored cholesterol metabolism after transfecting human normal cDNA or genomic DNA.In addition, by transfer of a human chromosome into 3T3 cell line from sphingomyelinosis mouse, we have found a human chromosome 18 restore the cholesterol metabolism. BY Southern analysis, the gene locus is assigned to distal portion of the chromosome. These results suggest that the gene defective in type C Niemann-Pick disease could be isolated by expresstion cloning using the mouse cell line and the selectable drug or by positional cloning

Report

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

    (18 results)

All Other

All Publications (18 results)

  • [Publications] K.Ohno: "A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metalolism similar to those in type C Niemaun-pick disease." Cell structure and Function. 17. 229-235 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] S.Akaboshi: "A hypoxanthine-guanine phosphoribosyl transferase deficient mutant from a cell line derived from a mouse model with a Niemaun-pick disease type C." Yonago Acta medica. 35. 221-230 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] J.Tohyama: "Type C Niemaun-Pick disease.Detection and quantification of cholesterol-accumulating cells in bone marrow." Brain and Development. 15. 316-317 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] A.Kurimasa: "Restoration of the cholesterol metabolism in 3T3 cell line derived from the sphinogomyelinosis mouse (spm/spm)by transfer of a human chromosome 18." Human Genetics. 92. 157-162 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] K.Ohno: "Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemaun-Pick type C fibroblasts." Cell Structure and Function. 18. 231-240 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] K.Ohno: "A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease" Cell Structureand Function. 17. 229-235 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] S.Akaboshi: "A hypoxanthine-guanine phosphoribosyl transferase deficient mutant from a cell line derived from a mouse model with a Niemann-Pick disease type C" Yonago Acta medica. 35. 221-230 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] J.Tohyama: "Type C Niemann-Pick disease. Detection and quantificatin of cholesterol accumulating cells in bone marrow" Brain and Development. 15. 316-317 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] A.Kurimasa: "Restoration of the cholesterol metabolism in 3T3 cell ines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18" Human Genetics. 92. 157-162 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] K.Ohno: "Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemann-Pick type C fibroblasts" Cell Structureand Function. 18. 231-240 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] K.Ohno: "A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease." Cell Structure and Function. 17. 229-235 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] S.Akaboshi,: "A hypoxanthine-guanine phosphonbosyl transferase deficient mutant from a cell line derived from a mouse model with a Niemann-pick dicease type C." Yonago Acta medica. 35. 221-230 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] J.Tohyama: "Type C Niemann-Pick olisease.Detection and quantification of cholesterol-accumulating cells in bone marrow." Brain and Development. 15. 316-317 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] A.Kurimasa: "Restoration of the cholesterol metabolism in 3T3 cell line derived from the sphinogomyelinosis mouse (spm/spm)by transfer of a human chromosome 18." Human Genetics. 92. 157-162 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] K.Ohno.: "Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemann-Pick type C fibroplasts." Cell Structure and Funotion. 18. 231-240 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] K.Ohno: "A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterot metabolism similar to those in type C Niemaun-Pick disease" Cell Structure and Function. 17. 229-235 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] S.Akaboshi: "A hypoxan thine phosphoribosyl transferase deficient mutant from a cell live derived from a mouse model with Niemaun-Pick disease type C." Yonago Acta medica. 35. 221-230 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] A.Kurimasa: "Restoration of the drolestcrol metabolism in 3T3 all lines derives from the sphingomyelinosis mouse(spm/spm)by transfer of a human chromosome 18." Human Genetics. (1993)

    • Related Report
      1992 Annual Research Report

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

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