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1993 Fiscal Year Final Research Report Summary

Genetic diagnosis of cerebrotendinous xanthomatosis

Research Project

Project/Area Number 04454167
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pathological medical chemistry
Research InstitutionUniversity of Tokyo

Principal Investigator

SEYAMA Yousuke  Univ.Tokyo, Facult.Med., Prof., 医学部・(医), 教授 (90010082)

Co-Investigator(Kenkyū-buntansha) KURIYAMA Masaru  Kagoshima Univ.Facult.Med.Assoc.Prof., 医学部, 助教授 (80107870)
KANO Kazutaka  Univ.Tokyo, Facult.Med., Associate, 医学部・(医), 助手 (70111507)
Project Period (FY) 1992 – 1993
KeywordsCerebrotendinous Xanthomatosis / CTX / Genetic Diagnosis / Sterol 27-Hydroxylase / RFLP
Research Abstract

Cerebrotendinous xanthomatosis (CTX) is a hereditary sterol storage disease. The biochemical defect that causes CTX is a deficiency of the mitochondrial sterol 27-hydroxylase which oxidizes the side chain of cholesterol in connection with formation of bile acids. In the present study two new different point mutations are found in the heme-ligand binding domain of the sterol 27-hydroxylase gene in three Japanese CTX patients and one CTX heterozygote. Two of the homozygotes as well as the heterozygote subject have a single base substitution of A for G at codon 441 [CGG(Arg) to CAG(Gln)]. Another homozygote has a transition of C to T at codon 441 [CGG(Arg) to TGG(Trp)]. These two different mutations result in two restriction fragment length polymorphisms (RFLPs) for the enzymes Stu I or Hpa II.We also assayd sterol 27-hydroxylase activity using skin fibroblasts from these patients. While two of the homozygous subjects have undetectable levels of the enzyme activity, one homozygous and heterozygous subjects have decreased levels of the enzyme activity. These results suggest that the newly identified point mutations in the sterol 27-hydroxylase gene could account for the sterol 270-hydroxylase deficiency in the Japanese CTX patients.

  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] Kuriyama,M.et al.: "Cerebrotendinous xanthomatosis:clinical and biochemical evaluation of eight patients and review of the literature." Journal of Neurological Science. 102. 225-232 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kim,K-S.et al.: "Corneal dystrophy with calcium phosphate deposition in cholestanol-fed mice." Analytical Science. 7. 929-932 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kim,K-S.et al.: "Effects of cholestanol feeding on corneal dystrophy in mice." Biochimica Biophysica Acta. 1085. 343-349 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Nagata,K.et al.: "Identification of 7alpha-hydroxy-3-oxo-4-cholestenoic acid in chronic subdural hematoma." Biochimica Byophysica Acta. 1126. 229-236 (1992)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kim,K-S.et al.: "Gallstone formation in cholestanol-fed mice." Journal of Biochemistry. 113. 420-424 (1993)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kim,K-S.et al.: "Identification of new mutations in sterol 27-hydroxylase gene in Japanese Patients with cerebrotendinous x anthomatosis." Journal of Lipid Research. 35(in press). (1994)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kuriyama, M.et al.: ""Cerebrotendinous xanthomatosis : clinical and biochemical evaluation of eight patients and review of article."" J.Neurol.Sci.102. 225-232 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kim, K.-S.et al.: ""Corneal dystrophy with calcium phosphate deposition in cholestanol-fed mice."" Analyt.Sci.7. 929-932 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kim, K.-S.et al.: ""Effects of cholestanol feeding on corneal dystrophy in mice."" Biochim.Biophys.Acta.1085. 343-349 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nagata, K.et al.: ""Identification of 7 alpha-hydroxy-3-oxo-4-cholestenoic acid in chronic subdural hematoma."" Biochim.Biophys.Acta.1126. 229-236 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kim, K.-S.et al.: ""Gallstone formation in cholestanol-fed mice."" J.Biochem.113. 420-424

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kim, K.-S.et al.: ""Identification of new mutations in sterol 27-hydroxylase gene in Japanese paitents with cerebrotendinous xanthomatosis."" J.Lipid Res.35, No.6. (1994)

    • 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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