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Glycogen Storage Disease Type 1b: Disorder of Microsomal membrane Transport.

Research Project

Project/Area Number 60480239
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionTOHOKU UNIVERSITY

Principal Investigator

NARISAWA Kuniaki  @tohoku University School of Medicine, 医学部, 教授 (90004647)

Co-Investigator(Kenkyū-buntansha) ISHIZAWA Shinobu  Tohoku University School of Medicine, 医学部附属病院, 講師 (60158748)
IGARASHI Yutaka  Tohiku University School of Medicine, 医学部, 講師 (70101144)
Project Period (FY) 1985 – 1987
Project Status Completed (Fiscal Year 1987)
Budget Amount *help
¥6,000,000 (Direct Cost: ¥6,000,000)
Fiscal Year 1987: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1986: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1985: ¥3,600,000 (Direct Cost: ¥3,600,000)
KeywordsGlycigen storaye diseose Type 1. Glycogen storage diseose Type16 / G6P translocase / G6Pase / G6Pトランスロケース / 好中球減少症 / 好中球機能 / 好中球減少 / G6P translocase
Research Abstract

patients with glycogen storage disease (GSD) type 1b have no defect of glucose-6-phosphatase in vitro, but the clinical findingsare relatively indistinguishable from those of GSD type la. We revealed that a basic defect in GSD 1b was located in the G6P transport system od the microsomal membrane,based on the findings that the glucose-6-phosphatase activity was highly latent in the fresh liver homogenates. In this study, we deceloped a method to investigate th uptake uptake G6P by microsomes. A significant uptake of G6P by microsomes was observed in controls. On the contrary, the patient with GSD 1b showed a negligble uptake of G6P. These findings provide direct evidence the a G6P-specific transport system exists in the human microzomal membrane and that GSD 1b is due to a defect of the G6P transport system. At present the identification of the locus of the defect in the variants of GSD type 1 requires an assay for both the G6P and the pyrophosphate phosphohydrolase using both unterated … More and disrupted preparations of microsomes. The determination of M6P phosphohydrolase activity is essent-ial in order to calculate the theoretical phsphohydrolase activities for the"intact microsomes". We developed micromethods to measure all three phosphohydevlase activities in both the untreated and the the disrypted prepare-tions, which can be applied to needle biopsy specimens. Using thissystematic assay method for G6Pase system, add-itional 3 patients with GSDlb were examined. Neutropenia is a distinctive feature of GSD lb. We investigated the relationship between metabolic abnormalities in the neutrophil and the defect of G6P translocase. The metabo-lic burst in stimulated neutrophils was investigated in 3 patientswith differnt clinical and enzymatic findings. The two siblings who had on residual activity of G6P translocase failed to show the normal stimulation of hexose monophosphata shunt activity with various. stimuli. On the hand, the adult patient with the partial defici-ency of G6P translocase activity showed normal respiratory burst after stimulation. These findings led us to spe-culate on the presence of G6P translocase in neutrophils and its function. Less

Report

(2 results)
  • 1987 Final Research Report Summary
  • 1986 Annual Research Report
  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] K. Tada: Biochemical medicine. 33. 212-222 (1985)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] K. Narisawa: J. Inher. Met. Dis.9. 297-300 (1986)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] 五十嵐裕: 日本先天代謝異常学会雑誌. 2. 22-32 (1986)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] K. Narisawa: Enzyme. 38. 177-183 (1987)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Keiya Tada, Kuniaki Narisawa,Yutaka Igarashi and Seiichi Kato: "Glycogen Storage Disease Type 1b: A new Model of Genetic Disorders involving the Transport System Of Intracellular membrane." Biochemical Medicine. 33,212-222,1985. 33. 212-222 (1985)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] K.Narisawa, S.Ishizawa, H.Okumura, K.Tada and T.Kuzuya: "Neutrophil Metabolic Dysfunction in Genetically Heterogeneous Patients with Glycogen Storage Disease Type 1b." J.Inher.Metab.Dis.9. 297-300 (1986)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Y. Ifarashi, HOotomo, S.Kto, K. Narisawa and K.TadA: "Pathogenesis in Glycogen Storage Disease Type 1b. --@defect of Microsomal G6P transport System." The Japanese Journal of inherited metabolic Disease.2. 22-32 (1986)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] Kuniaki Narisaws, Yutaka Igarashi, Keiya Tada: "Glycoegn Storage Disease Type 1b: Genetic Disorder involving the Transport System of Intracellular Membrane." Enzyme. 38. 177-183 (1987)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] M. Kikucai, K.Haginoya, S.Miyabayashi, H.Satoh, K.Narisawa ans K.Tada: "Secondary amyloidosis in glycogen storage disease type 1b"

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1987 Final Research Report Summary
  • [Publications] 五十嵐裕: Biochem.Biophys.Ros.Commun.119. 593 (1984)

    • Related Report
      1986 Annual Research Report
  • [Publications] 成澤邦明: J.Inher.Meatb.Dis. 9. 297-300 (1986)

    • Related Report
      1986 Annual Research Report
  • [Publications] 五十嵐裕: J.Inher.Metab.Dis.8. 153-154 (1985)

    • Related Report
      1986 Annual Research Report

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

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