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Biochemical and molecular genetical studies on a new glycoprotein storage disorder

Research Project

Project/Area Number 02671007
Research Category

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

Allocation TypeSingle-year Grants
Research Field Biological pharmacy
Research InstitutionUniversity of Shizuoka

Principal Investigator

HIRABAYASHI Yoshio  University Shizuoka, Department of Biochemistry, Assistant Professor, 薬学部, 講師 (90106435)

Co-Investigator(Kenkyū-buntansha) KANZAKI Tamotsu  Nagoya City University School of Medicine, Department of Dermatology, Associate, 医学部, 助教授 (80118801)
Project Period (FY) 1990 – 1991
Project Status Completed (Fiscal Year 1991)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1991: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1990: ¥1,600,000 (Direct Cost: ¥1,600,000)
KeywordsKanzaki disease / glycoprotein / Schindler disease / O-linked type oligosaccharide / alpha-N-acetylgalactosaminidase / 先天性代謝異常症 / アミノ酸ーOーグリコシド
Research Abstract

We found a new case with abnormality in the catabolism of 0-linked oligo saccharides of glycoprotein. The patient has a typical syndrome accompanied by Fabry's disease. On direct analysis of the patient urine, there were found four major spots but not in normal urine samples. Structural analysis by NMR and FAB-MS revealed that the accumulated compounds to be O-linked oligosaccharides bound to either peptides or single amino acids. Based on assessment of exo- and endo-glycosidase activities, the patient was shown to be caused by a deficiency of alpha-N-acetylgalactosaminidase. In collaboration with Dr. Desnick, the disease was caused by C - T transition of the enzyme gene.
Two members of a consanguineous Japanese family with angiokeratoma were found. Biochemical studies showed elevated excretion of urinary sialooligosaccharides and decreased activity of aspartylglycosylamine amidohydrolase. Ours are the first Japanese patients diagnosed as aspartylglycosaminuria.
To analyze the accumulated compound in the patient urine from the new type of the diseases -, highly sensitive method using HPLC with PAD detector has been developed. Using the analytical system, for example, O-linked type oligosaccharides can be detected and determined with few ul of urine sample from Kanzaki disease patient.

Report

(3 results)
  • 1991 Annual Research Report   Final Research Report Summary
  • 1990 Annual Research Report
  • Research Products

    (15 results)

All Other

All Publications (15 results)

  • [Publications] Y.Hirabayashi,Y.Matsumoto,M.Matsumoto,T.Toida,N,Iida,T.Matsubara: "Isolation and characterization of major amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder(Kanzaki disease)" J.Biol.Chem.265. 1693-1701 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] J.Fan,K.Yamamoto,Y.Matsumoto,Y.Hirabayashi: "Action of endo-α-N-acetylgalactosaminidase from Alcaligene sp.Comparison with the enzyme from Diplococcus pneumoniae," Biochem.Biophys.Res.Commun.169. 751-757 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] Y.Hirabayashi,T.Kanzaki: "Defects in the metabolism of O-linked oligosaccharides of glycoproteins" Trends in glycoscience and glycotechnology. 2. 93-99 (1990)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] K.Yoshida,S.Ikeda,N.Yanagisawa,T.Yamaguchi,S.Tsuji and Y.Hirabayashi: "Two Japanese cases with aspartylglycosaminuria:clinical and morphological features" Clinical Genetics. 40. 318-325 (1991)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] 平林 義雄,入江 史敏,神埼 保: "び慢性被角血管腫を伴った新しいリソゾ-ム蓄積症の臨床的、生化学的研究" 日本先天代謝異常学会. 7. 53-57 (1991)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] Y. Hirabayashi: "Isolation and characterization of major amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease)" J. Biol. Chem.265. 1693-1701 (1990)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] J. Fan: "Action of end-alpha-N-acetylgalactosaminidase from Alcaligene sp. Comparison with the enzyme from Diplococcus pneumonia" Biochem. Biophys. Res. Commun.169. 751-757 (1990)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] Y. Hirabayashi: "Defects in the metabolism of O-linked oligosaccharides of glycoproteins" Trends in Glycoscience and Glycotechnology. 2. 93-99 (1990)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] K. Yoshida: "Two Japanese cases with aspartylglycosaminuria : Clinical and morphological features" Clinical Genetics. 40. 318-325 (1991)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1991 Final Research Report Summary
  • [Publications] K.Yoshida,S.Ikeda,N.Yanagisawa,T.Yamaguchi,S.Tsuji and Y.Hirabayashi,: "Two Japanese cases with aspartylglycosaminuria:clinical and morphological features" Clinical Genetics. 40. 318-325 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] 平林 義雄,入江 史敏,神埼 保: "び慢性被角血管腫を伴った新しいリソゾ-ム蓄積症の臨床的、生化学的研究" 日本先天代謝異常学会. 7. 53-57 (1991)

    • Related Report
      1991 Annual Research Report
  • [Publications] F.Irie,Y.Suzuki,Y.Hirabayashi: "Highly sensitive detection of urinary oligosaccharide derivatives by HPLC with pulsed amperometric detector" Biochim.Biophys.Acta.

    • Related Report
      1991 Annual Research Report
  • [Publications] Y.Hirabayshi,Y.Matsumoto,M.Matsumoto,T.Toida,N.Iida,T.Matsubara,: "Isolation and characterization of major amino acid Oーglycosides and a dipeptide Oーglycoside from a new lysosomal storage disorder (Kanzaki disease)" J.Biol.Chem.265. 1693-1701 (1990)

    • Related Report
      1990 Annual Research Report
  • [Publications] J.Fan,K.Yamamoto,Y.Matsumoto,Y. Hirabayashi,: "Action of endoーαーNーacetylgalactosaminidase from Alcaligene sp.Comparison with the enzyme from Diplococcus pneumoniae," Biochem.Biophys.Res.Commun.169. 751-757 (1990)

    • Related Report
      1990 Annual Research Report
  • [Publications] Y.Hirabayashi,T.Kanzaki: "Defects in the metabolism of Oーlinked oligosaccharides of glycoproteins" Trends in glycoscience and glycotechnology. 2. 93-99 (1990)

    • Related Report
      1990 Annual Research Report

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Published: 1990-04-01   Modified: 2016-04-21  

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