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1993 Fiscal Year Final Research Report Summary

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
KeywordsNiemann-Pick Desease / cholesterol transport / selectable markers / gene cloning / immotalized cell
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

  • Research Products

    (10 results)

All Other

All Publications (10 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
  • [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
  • [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
  • [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
  • [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
  • [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
  • [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
  • [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
  • [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
  • [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

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Published: 1995-03-27  

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