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Genetics of Presbyacus's and its clinical application

Research Project

Project/Area Number 10307039
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Otorhinolaryngology
Research InstitutionTOHOKU UNIVERSITY

Principal Investigator

TAKASAKA Tomonori  Dept Otolaryngol, School of Medicine, Tohoku University, Professor, 大学院・医学系研究科, 教授 (80004646)

Co-Investigator(Kenkyū-buntansha) OSHIMA Takeshi  Dept Otolaryngol, School of Medicine, Tohoku University, Instruct, 大学院・医学系研究科, 助手 (40241608)
KAWASE Tetsuaki  Dept Otolaryngol, School of Medicine, Tohoku University, Assist Professor, 医学部・附属病院, 講師 (50169728)
IKEDA Katsuhisa  Dept Otolaryngol, School of Medicine, Tohoku University, Assoc Professor, 大学院・医学系研究科, 助教授 (70159614)
菊地 俊彦  東北大学, 医学部, 助手 (70177799)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥34,500,000 (Direct Cost: ¥34,500,000)
Fiscal Year 1999: ¥8,200,000 (Direct Cost: ¥8,200,000)
Fiscal Year 1998: ¥26,300,000 (Direct Cost: ¥26,300,000)
Keywordsknockout mice / Brain-4 / Connexin-26 / Endocochlear potential / Hereditary deafness / Aging / DNA mutation / 老人性難聴 / ミトコンドリアDNA / 老化マウス / 変異 / 内耳 / Brn4 / 加齢
Research Abstract

DFN3, and X-linked nonsyndromic mixed deafness is caused by mutations in BRN-4 gene, which encodes a POU transcription factor gene. By gene targeting technology Brn-4-deficient mice were created and found to exhibit profound deafness. No gross morphological changes were observed in the conductive ossicles or cochlea, although there was a drastic reduction in endocochlear potential (EP). Electron microscopy revealed severe ultrastructural alterations in cochlear spiral ligament fibrocytes. Connexin 26 gene (GJB2) is known to be expressed in the cochlear fibrocytes and to play a important role in the auditory function. We have sequenced the GJB2 gene in 39 Japanese patients with prelingual sensorineural hearing loss. Three novel mutations were identified : a single nucleotide deletion (235delC), a 16 bp-deletion (176-191 del (16)) and a nonsense mutation (408c>a) in five unrelated patients. These findings indicated that GJB2 mutations are also responsible for prelingual deafness in Japan. These findings suggest that these fibrocytes, which are mesenchymal in origin and have been postulated to function in KィイD1+ィエD1 homeostasis, may play a critical role in auditory function and show a major cause of the hereditary deafness.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (24 results)

All Other

All Publications (24 results)

  • [Publications] Kudo et al.: "New Commom mutations in the GTB2"Am J Med Genet. 90. 141-145 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Minowa et al.: "Altered cochlear fibrocytes in a mouse model"Science. 285. 1408-1411 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Oshima et al.: "Hearing loss with a mitochondrial gene"Laryngoscope. 109. 334-338 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Goto et al.: "Expression and localization of the Na^+-H^+ exchager"Hear Res. 128. 89-96 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Hirano et al.: "Prognosis of sudden deafness"ANL. 26. 111-115 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ogura et al.: "Profound Hearing Loss Attributable to cochlear Nerve"Laryngoscope. 109. 1820-1824 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kudo et al.: "New common mutations in the GJB2"Am J Med Genet. 90. 141-145 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Minowa et al.: "Altered cochlear fibrocytes in a mousemodel"Science. 285. 1408-1411 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Oshima et al.: "Hearing loss with a mitochondrial gene"Laryngoscope. 109. 334-338 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Goto et al.: "Expression and localization of the Na+-H+exchanger"Hear res. 128. 89-96 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Hirano et al.: "Prognosis of sudden deafness"ANL. 26. 111-115 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Ogura et al.: "Profound hearing loss attributable to cochlear nerve"Laryngoscope. 109. 1820-1824 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kudo et al.: "New Common mutations in the GJB 2"Am J Med Genet. 90. 141-145 (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Minowa et al.: "Altered cochlear fibrocytes in a mouse model"Science. 285. 1408-1411 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Oshima et al.: "Hearing loss with a mitochondrial gene"Laryngoscope. 109. 334-338 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Goto et al.: "Expression and localization of the Na^+-H^+ exchanger"Hear Res. 128. 89-96 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Hirano et al.: "Prognosis of sudden deafness"ANL. 26. 111-115 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Ogura et al.: "Profound Hearing Loss Attributable to cochlear Nerve"Laryngoscope. 109. 1820-1824 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Ara HA et al: "Acute effects of conbined administration of kananyon" Tohoku J Exp Med. 186. 79-86 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Oshima T et al: "Hearing loss with a mitochondnial gene" Laryngoscope. (印刷中).

    • Related Report
      1998 Annual Research Report
  • [Publications] Goto S et al: "Expression and localization of Na-H exchange" Hear Res. (印刷中).

    • Related Report
      1998 Annual Research Report
  • [Publications] Takeda M et al: "pH regulation of the globular sulostance" Hear Res. 124. 91-98 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Zheng et al: "Apoptotio changes on the ciged cochlean" Hear Res. 126. 11-18 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Ueda N et al: "Mitochondrial DNA deletion" Laryngoscope. 108. 580-584 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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