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1991 Fiscal Year Final Research Report Summary

Melecular genetic study in the pathogenesis of achondroplasia

Research Project

Project/Area Number 01480264
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  The Tokyo Metropolitan Institute of Medical Science Vice Director, 副所長 (90010389)

Co-Investigator(Kenkyū-buntansha) YAMANAKA Tatsuhiro  Yaizu Municipal Hospital Chief of Pediatrics, 小児科, 医長 (00143462)
NAGAO Yoshiro  Clinical Genetics Investigator, 臨床遺伝学, 流動研究員 (60211439)
ITOH Kohji  Clinical Genetics Investigator, 臨床遺伝学, 研究員 (00184656)
OSHIMA Akihiro  Clinical Genetics Chief Investigator, 臨床遺伝学, 主任研究員 (20203763)
SAKURABA Hitoshi  Clinical Genetics, Chief, 臨床遺伝学, 室長 (60114493)
Project Period (FY) 1989 – 1991
Keywordsachondroplasia / two-dimensional gel electrophoresis / gene expression / mutant protein / lysosomal disease / genotype-phenotype correlation
Research Abstract

We developed a rapid and reproducible method of two-dimensional electrophoresis for screening of abnormal proteins expressed in fibroblasts from patients with inherited diseases. After silver staining, the electrophoresis gel was subjected to semi-automatic digitizer-personal computer analysis. It was used for detection of abnormal spots in inherited diseases of currently unknown etiology. In a preliminary study, some patients with achondroplasia showed two abnormal spots that were not detected in inherited other individuals, healthy or with other metabolic/nonmetabolic diseases. However, after a survey of a large number of cell strains, we found that they are not specific of achondroplasia but expressed in some individuals not related to this disease. They may represent neutral polymorphism or have connection to specific physical condition. We have not further information about their physiological roles as yet.
Simulteneously, in addition to streening of abnormal protein expressio in diseases, we did analysis of proteins expressed by mutant genes responsible for inherited lysosomal diseases. Each mutant gene expressed different intracellular turnover of mutant proteins in human beta-galactosidase deficiency diseases, and a clear relation between phenotype and genotype was observed in human beta-galactosidase deficiency diseases.

  • Research Products

    (13 results)

All Other

All Publications (13 results)

  • [Publications] Itoh K,oshima A,Sakuraba H,Suzuki Y: "Characterization and purification of human β-galactosidase overexpressed in recombinant baculovirus-infected Spodoptera frugiperda cells" Journal of Inherited Metabolic Disease. 14. 813-818 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Suzuki Y: "Electrophoresi of mutant proteins in inherited diseases" Journal of Chromatogrphy. 569. 407-419 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Itoh K,Takiyama N,Nagao Y,Oshima A,Sakuraba H,Suzuki Y: "Acid carboxypeptidase deficiency in galactosialidosis" Japanese Journal of Human Genetics. 36. 171-177 (1991)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yang R-C,Tsuji A,Suzuki Y: "Abnormal protein spots revealed by two-dimensional electrophoresis in mycoplasma-infected human diseases" Electrophoresis. 11. 344-346 (1990)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Yang R-C,Tsuji A,Suzuki Y: "Two-dimensional electrophoresis aided by personal comupter analysis for screening of mutant proteins in inherited diseses" Electrophoresis. 10. 785-792 (1989)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Iwasaki Y, Tsuji A, Omura K, Suzuki Y: "Purification and characterization of beta-mannosidase from human placenta." J Biochem. 106. 331-335 (1989)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yang R-C, Tsuji A, Suzuki Y: "Two-dimensional electrophoresis aided by personal computer analysis for screening of mutant proteins in inherited diseases." Electrophoresis. 10. 785-792 (1989)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Iyoda K, Nishizawa M, Yonezawa M, Tanaka J, Suzuki Y: "Normal proteolipid protein content in cerebral white matter in a case with the classic Pelizaeus-Merzbacher disease." Brain Dysfunct. 2. 255-261 (1989)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Itoh K, Oshima A, Sakuraba H, Suzuki Y: "Expression, glycosylation, and intracellular distribution of human beta-galactosidase in recombinant baculovirus-infected Spodoptera frugiperda cells." Biochem Biophys Res Commun. 167. 746-753

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Yang R-C, Tsuji A, Suzuki Y: "Abnormal protein spots revealed by two-dimensional electrophoresis in mycoplasma-infected human fibroblasts" Electrophoresis. 11. 344-346 (1990)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Oshima A, Itoh K, Nagao Y, Sakuraba H, Suzuki Y: "beta-galactosidase-deficient human fibroblasts : uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells." Hum Genet. 85. 505-508 (1990)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kase R, Itoh K, Takiyama N, Oshima A, Sakuraba H, Suzuki Y: "Simultaneous deficiency of esterase, carboxyterminal deminase and acid carboxypeptidase activities." Biochem Biophys Res Commun. 172. 1175-1179

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Itoh K, Takiyama N, Nagao Y, Oshima A, Sakuraba H, Potier M, Suzuki Y: "Acid carboxypeptidase deficiency in galactosialidosis." Jpn J Hum Genet. 36. 171-177 (1991)

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

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Published: 1993-03-16  

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