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Research on the basic defect of carbohydrate-deficient glycoprotein syndrome

Research Project

Project/Area Number 08670887
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTottori University

Principal Investigator

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

Co-Investigator(Kenkyū-buntansha) HIGAKI Katsumi  Tottori University, Department of Nerobiology, Lecturer, 医学部, 助手 (90294321)
佐治 眞理  鳥取大学, 医学部, 助教授 (50114179)
Project Period (FY) 1996 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1997: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1996: ¥1,200,000 (Direct Cost: ¥1,200,000)
Keywordscarbohydrate-deficient glycoprotein syndrome / disialotransferrion / asiolotransferrin / dehydrodolichol reductase / 糖蛋白 / 糖鎖 / 小胞体 / ドリコール / 遺伝病 / Carbohydrate-deficient
Research Abstract

The carbohydrtae-deficient glycoprotein (CDG) syndrome is newly recongized genetic disorder characterize by apppearance of serum asialo-and disialo-transferrin. We have previously reported that the sugar chain attached to transferrin in the patients is structurally normal and a defect in asparagine N-linked sugar chain in one or two of the possible glycosylation sites.
In this study we have analyzed metabolic pathways from precursors to lipid linked oligosaccharide. When CDG fibroblasts were loaded with [3H] glucosamine and analyzed lipid linked oligosaccharide intermediates, the intermediates in CDG fibroblasts were decreased without specific block. Then we have loaded [3H] mannose and analyzed lipid linked oligosaccharide intermediates. We could not find any metabokic block in this pathway. Finally we have loaded [3H] mevalonic acid and found a metabolic block in a step from dehydrodolicol to dolicol. We have concluded that appearance of glycoproteins lacking sugar chain may caused by a partial deficiency of dehydrodolicol reduction^<2)>.
Prenatal diagnosis of CDG syndrome using carbohydrate-deficient glycoprotein in cordblood has been reported to be impossible, because carbohydrate-deficient glycooproteins appear after birth. To detect abnormal processing of intracellular glycoprotein, we have studied lysosomal enzyme proteins in cultures CDG fibroblasts. Although we could not find any abnormally glycosylated enzyme proteins, we have found an increase in alpha chain of beta hexosaminidase protein, suggesting abnormal processing of hexosaminidase protein^<3)>.

Report

(3 results)
  • 1997 Annual Research Report   Final Research Report Summary
  • 1996 Annual Research Report
  • Research Products

    (14 results)

All Other

All Publications (14 results)

  • [Publications] T.Ohkura et al.: "A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I." J.Biol.Chem.272. 6868-6875 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] S.Ichisaka et al.: "Increased expression of β-hexosaminidase α chain in cultured skinfibroblast from patients with carbohydrate-deficient glycoprotein syndrome type I." Brain Dev. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] T.Ohkura, K.Fukushima, A.Kurisaki, H.Sagami, K.Ogura, K.Ohno, S.Hara-Kuge, K.Yamashita: "A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I" J.Biol.Chem.272. 6868-6875 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] S.Ichisaka, K.Ohno, I.Yuasa, E.Nanba, H.Sakuraba, Y.Suzuki: "Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I" Brain Dey. 20 (in press). (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] T.Ohkura et al.: "A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I." J.Biol.Chem.272. 6868-6875 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] S.Ichisaka et al.: "Increased expression of β-hexosaminidase α chain in cultured skin fibroblas from patients with carbohydrate-deficient glycoprotein syndrome type I." Brain Dev. (in press).

    • Related Report
      1997 Annual Research Report
  • [Publications] T.Ohkura et al: "A partial deficiency od dehydrodolichol reduction is a cause of Carbohydrate-deficient Glycoprotein Syndrome type I." J.Biol.Chem.272. 6868-6875 (1997)

    • Related Report
      1996 Annual Research Report
  • [Publications] K.Urakami et al: "Analysis of amyloid precursor protein mRNA in skin fibroblasts in Down syndrome" Dementia. 7. 82-85 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] C.Nakano et al: "A Japanese case of infantile sialic acid storage disease." Brain Development. 18. 153-156 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] M.Saji et al: "Prevention of transneuronal degeneration of neurons in the substantia nigra reticulata by ablation of the subthalamic nucleus." Experimantal Neurology. 141. 120-129 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] T.Yano et al: "Accumulation and increased synthesis of GM2 ganglioside in Niemann-Pick disease type C fibroblasts." Proc.Jpn.Acad.72B. 214-219 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] T.Yasaka et al: "Apoptosis involved in density-depenent regulation of rat 3Y1 cell culture." Cell Struct.Funct.21. 483-489 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 大野耕策: "脳を作り脳を育てる遺伝子" 共立出版(東京), 114 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] K.Yamashita and K.Ohno: "Glycoprotein and Disease" Elsevier(Amsterdam), 445-445 (1996)

    • Related Report
      1996 Annual Research Report

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Published: 1996-04-01   Modified: 2016-04-21  

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