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1995 Fiscal Year Final Research Report Summary

Etiology and Pathogenesis of CDG Syndrome

Research Project

Project/Area Number 06454311
Research Category

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

Allocation TypeSingle-year Grants
Research Field Pediatrics
Research InstitutionThe Tokyo Metropolitan Institute of Medical Science

Principal Investigator

SUZUKI Yoshiyuki  Vice-Director, The Tokyo Metropolitan Institute of Medical Scince, 副所長 (90010389)

Co-Investigator(Kenkyū-buntansha) OSHIMA Akihiro  Inverstigator, Department of Clinical Genetics, The Tokyo Metropolitan Institute, 臨床遺伝学研究部門, 研究員 (20203763)
ITOH Kohji  Investigator, Department of Clinical Genetics, The Tokyo Metropolitan Institute, 臨床遺伝学研究部門, 研究員 (00184656)
SAKURABA Hitoshi  Head, Department of Clinical Genettics, The Tokyo Metropolitan Institute of Medi, 臨床遺伝学研究部門, 研究員 (60114493)
OHNO Kousaku  Professor, Department of Neurobiology, Tottori University, 医学部, 教授 (70112109)
Project Period (FY) 1994 – 1995
KeywordsCDG syndrome / alpha-fucosidase / beta-hexosaminidase / transferrin / antithrombin / phosphomannomutase
Research Abstract

CDG syndrome is a recently identified hereditary disease with unique neurological and general somatic manifestations, and its etiology and pathogenesis are have been unknown up till recently. We tried to analyze molecular abnormalities in somatic cells from patients with this disease. Among several lysosomal enzymes, beta-hexosaminidase and alpha-fucosidase showed high catalytic activities in serum. The electrofocusing pattern of the latter revealed an increase of protein bands moving more toward the anode, indicating an increase of sialic acid-containing glyco-protein molecules. Serum transferrin and antithrombin contained abnormal molecules of small size detected by immunoblotting. The mature alpha-subunit of beta-hexosaminidase was increased in cultured fibroblasts, but normal extracellularly. In these cells, phosphomannomutase activity was extremely low in two patients. This abnormality probably induces a decrease of intra-cellular mannose 1-phosphate and GDP-mannose, resulting in insufficient glycosylation of glycoprotein molecules.

  • Research Products

    (6 results)

All Other

All Publications (6 results)

  • [Publications] Iijima K, et al: "Hemostatic studies in patieuts with car colyerate-deficient glycopuotiru syndropce" Throwbosis Res. 76. 193-198 (1994)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yuasa I, et al: "Carbolydrate-deficient glytoproteiu syndrome: electrophoretic study of multiple serum glytopesteius" Brain Den. 17. 13-19 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Akaboshi S. et al: "Neuroradislogical fiudings in the carboleydrate-defirient glycoproteiu syndrome" Neuroyadiology. 37. 491-495 (1995)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Iijima K,et al: "Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome." Thrombosis Res. 76. 193-198 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yuasa I, et al: "Carbohydrate-deficient glycoprotein syndrome : electrophoretic study of multiple serum glycoproteins." Brain Dev. 17. 13-19 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Akaboshi S, et al: "Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome." Neuroradiology. 37. 491-495 (1995)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 1997-03-04  

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