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2004 Fiscal Year Final Research Report Summary

Analysis of deafness using homeobox and molecular motor gene, and knockout mouse

Research Project

Project/Area Number 14370539
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Otorhinolaryngology
Research InstitutionTokyo Medical and Dental University

Principal Investigator

KITAMURA Ken  Tokyo Medical and Dental University, Dept of Otolaryngology, Graduate School Professor, 大学院・医歯学総合研究科, 教授 (90010470)

Co-Investigator(Kenkyū-buntansha) TSUNODA Atsunobu  Tokyo Medical and Dental University, Dept of Otolaryngology, Associate Professor, 大学院・医歯学総合研究科, 助教授 (00280983)
KOUDA Hiroko  Tokyo Medical and Dental University, Dept of Otolaryngology Faculty, 大学院・医歯学総合研究科, 助手 (80334423)
YASHIMA Takatoshi  Tokyo Medical and Dental University, Dept of Otolaryngology Faculty, 医学部付属病院, 助手 (50372438)
SUMI Takurou  Tokyo Medical and Dental University, Dept of Otolaryngology Faculty, 医学部付属病院, 助手 (20361701)
Project Period (FY) 2002 – 2004
KeywordsGene / Genome / Neurology / Brain・Nerve / Cranial Nerve
Research Abstract

The purpose of the present research is to analyze the mechanism of deafness using the knockout mouse and patients with hereditary hearing loss. The experimental animals are mice with mutation of molecular motor and homeobox genes, respectively. The mouse with mutation of the leptin gene was also studied. We identified mutations of EYA1 gene in patients with Branchio-Oto syndrome. EYA1 genes are known to function in association with homeobox genes such as SIX1 gene. The present study demonstrated that six1 gene plays a key role in developing and differentiation of the otic vesicle. Six1 knock out mice showed no development of the inner ear, whose phenotype is quite different from human with mutation of SIX1. These phenotype-genotype difference between mouse and human is prerequisite for understanding the gene function. Jackson shaker mouse is demonstrated to have mutation of the sans, which works as a mechanosensory transduction channel in accordance with molecular motor. Leptin knockout mouse is obese and suffers from diabetes mellitus. They become deaf younger than wild animal. Light microscopic findings of the inner ear showed no abnormality in hair cells, spiral ganglion cells, and stria vascularis, even though their hearing level was already below the normal level.

  • Research Products

    (12 results)

All 2004 2003 2002

All Journal Article (12 results)

  • [Journal Article] Six1 controls patterning of the mouse otic vesicle.2004

    • Author(s)
      Ozaki H, Nakamura K, Funahashi J, et al.
    • Journal Title

      Development 131

      Pages: 551-562

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Six1 controls patterning of the mouse otic vesicle.2004

    • Author(s)
      Ozaki H
    • Journal Title

      Development 131

      Pages: 551-562

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Audiovestibular findings in patients with mitochondrial A1555G mutation.2004

    • Author(s)
      Noguchi Y
    • Journal Title

      Laryngoscope 114

      Pages: 344-348

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A Mutation of the EYA1 gene in patients with Branchio-oto syndrome.2003

    • Author(s)
      Yashima T, Noguchi Y, Ishikawa K, et al.
    • Journal Title

      Acta Otolaryngologica 123

      Pages: 279-282

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELAS.2003

    • Author(s)
      Takahashi K, Merchant SN, Miyazawa T, et al.
    • Journal Title

      Laryngoscope 113

      Pages: 1362-1368

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.2003

    • Author(s)
      Kikkawa Y, Shitara H, Wakana S, et al.
    • Journal Title

      Hum Mol Genet 12

      Pages: 453-461

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 難聴遺伝子と耳疾患2003

    • Author(s)
      喜多村 健, 高橋克昌, 玉川雄也, 他
    • Journal Title

      耳鼻臨床 96(11)

      Pages: 939-947

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] A Mutation of the EYA1 gene in patients with Branchio-oto syndrome.2003

    • Author(s)
      Yashima T
    • Journal Title

      Acta Otolaryngologica 123

      Pages: 279-282

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELAS.2003

    • Author(s)
      Takahashi K
    • Journal Title

      Laryngoscope 113

      Pages: 1362-1368

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice.2003

    • Author(s)
      Kikkawa Y
    • Journal Title

      Hum Mol Genet 12

      Pages: 453-461

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Phenotype of DFNA11 : A nonsyndromic hearing loss caused by a myosin VIIA mutation.2002

    • Author(s)
      Tamagawa Y, Ishikawa Ka, Ishikawa Ko, et al.
    • Journal Title

      Laryngoscope 112

      Pages: 292-297

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Phenotype of DFNA11 : A nonsyndromic hearing loss caused by a myosin VIIA mutation.2002

    • Author(s)
      Tamagawa Y
    • Journal Title

      Laryngoscope 112

      Pages: 292-297

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

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Published: 2006-07-11  

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