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Molecular genetics and cell biology of a glaucoma gene and the gene product

Research Project

Project/Area Number 11671725
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionUniversity of Tokyo

Principal Investigator

SUZUKI Yasuyuki  School of Medicine, Department of Ophthalmology, University of Tokyo, Lecturer, 医学部・附属病院, 講師 (80196881)

Co-Investigator(Kenkyū-buntansha) AIHARA Makoto  School of Medicine, Department of Ophthalmology, University of Tokyo, Assistant, 医学部・附属病院, 助手 (80222462)
Project Period (FY) 1999 – 2000
Project Status Completed (Fiscal Year 2000)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2000: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1999: ¥2,100,000 (Direct Cost: ¥2,100,000)
Keywordsglaucoma / gene mutations / myocilin / phenotype / bovine trabecular meshwork culture cells / in situ hybridization / cDNA cloning / steroid
Research Abstract

Mutations in myocilin gene were screened in more than 150 primary open-angle glaucoma patients with single strand conformation polymorphism and direct sequencing. There was no patient who had family history of glaucoma and a mutation in myocilin gene but one pedigree in addition to the ones we previously reported had a mutation in myocilin gene at the 1109th nucleotide pair. The mutation was C1109T which resulted in Pro370Leu amino acid mutation. The phenotype of the patients was almost the same as the one we previously reported : the patients developed very high intraocular pressure earlier than 20 years old and had a juvenile onset type open-angle glaucoma. For the purpose of investigating the function of myocilin protein, we cloned bovine myocilin cDNA using the cultured bovine trabecular meshwork cells. According to the determined cDNA sequence, we made nucleotide probes and investigated distribution of myocilin in bovine eye by in situ hybridization. Using semi-quantitive PCR and realtime quantitive PCR, we investigated the change of expression of myocilin mRNA by steroid stimulation. The primer pairs and fluorescein probes were constructed based on the determined bovine myocilin cDNA sequence. As a result, dexamethason treatment induced myocilin mRNA expression dose-dependently.

Report

(3 results)
  • 2000 Annual Research Report   Final Research Report Summary
  • 1999 Annual Research Report
  • Research Products

    (9 results)

All Other

All Publications (9 results)

  • [Publications] Fumiko TANIGUCHI et al.: "The Gly367Arg mntation in the myocilin gene causes adult-onset primary open-angle glancoma"Jpn J Ophthalmol. 44. 445-448 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fumiko TANIGUCHI et. al.: "Molecular cloning of the hovine MYOC and induction of its expression in trahecnlar meshwork cells."Inrest Ophthalmol Vis Sci. 41. 2070-2075 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fumiko TANIGUCHI et.al.: "Clinical phenotype of a Japanese primary open angle glaucona family with a mutation in frihcaular meshwork inducible gncocorticoil respoase gene"Jpn J Ophthalmol. 43. 80-84 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Taniguchi F, Suzuki Y, Shirato S, Araie M: "The Gly367Arg mutation in the myocilin gene causes adult-onset primary open-angle glaucoma."Jpn J Ophthalmol. 44. 445-448 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Taniguchi F, Suzuki Y, Kurihara H, Kurihara Y, Kasai H, Shirato S, Araie M: "Molecular cloning of the bovine MYOC and induction of its expression in trabecular meshwork cells."Invest Ophthalmol Vis Sci. 41. 2070-2075 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Taniguchi F, Suzuki Y, Shirato S, Ohta S: "Clinical phenotype of a Japanese primary open angle glaucoma family with a mutation in trabecular meshwork inducible glucocorticoid response gene."Jpn J Ophthalmol. 43. 80-84 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fumiko TANIGUCHI et al.: "The Gly367 Arg mutation in the myocilin gene cause adult-onset primary open-angle glaucoma"Jpn J Ophthalmol. 44. 445-448 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Fumiko TANIGUCHI et al.: "Molecular cloning of the borine MYOC and induction of its expression in trabecular moshword cells"Invest Ophthalmol Vis Sci. 41. 2070-2075 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Taniguchi F. et al.: "Clinical phenotype of a Japanese primary open angle glaucoma family with a mutation in trabeculor mesheork inducible glucocurticoid response gene"Jpn J Ophthalmol. 43・5. 80-84 (1999)

    • Related Report
      1999 Annual Research Report

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Published: 1999-04-01   Modified: 2016-04-21  

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