Molecular mechanism of disturbed distortion product in carriers of GJB2 mutation

2008 Fiscal Year Final Research Report

• Project/Area Number: 19791237
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Otorhinolaryngology
• Research Institution: Juntendo University
• Principal Investigator: NAKAZAWA Asami Juntendo University, 医学部, 助教 (60384111)
• Project Period (FY): 2007 – 2008
• Keywords: 先天聾 / Gjb遺伝子 / 難聴遺伝子 / DPOAE / 聴性脳幹反応検査

Research Abstract

いわゆる聴力正常者についての難聴遺伝子スクリーニングは行われてきたが、それらで検出された変異保因者のsubclinicalな解析は症例数が少なかった。今回、多数の検体を解析することによって得られるGJB2遺伝子の保因者でのDPOAEを用いた有毛細胞の機能障害についての知見を得ることができた。ヒトのGJB2遺伝子変異に等価の動物モデルを作成して、ヒトの保因者を反映しているヘテロのマウスを解析することでGJB2遺伝子の蝸牛における分子メカニズムの解明に貢献できた。

Research Products

• [Journal Article] Noninvasive In Vivo Delivery of Transgene via Adeno-Associated Virus into Supporting Cells of the Neonatal Mouse Cochlea. (2008)
  • Author(s): Iizuka T, Kanzaki S, Mochizuki H, Inoshita A, Narui Y, Furukawa M, Kusunoki T, Saji M, Ogawa K, Ikeda K.
  • Journal Title: Human Gene Therapy 19(4) Pages: 384-90
• [Journal Article] Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice. (2008)
  • Author(s): Inoshita A, Iizuka T, Okamura HO, Minekawa A, Kojima K, Furukawa M, Kusunoki T, Ikeda K.
  • Journal Title: Neuroscience 156(4) Pages: 1039-47
• [Journal Article] Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. (2003)
  • Author(s): Kudo T, Kure S, Ikeda K, Xia AP, Katori Y, Suzuki M, Kojima K, Ichinohe A, Suzuki Y, Aoki Y, Kobayashi T, Matsubara Y
  • Journal Title: Hum Mol Genet 12 Pages: 995-1004
• [Presentation] Noninvasive In Vivo Delivery of Transgene via Adeno-Associated Virus into Supporting Cells of the Neonatal Mouse Cochlea. (2009)
  • Author(s): Iizuka T, Kanzaki S, Mochizuki H, Inoshita A, Narui Y, Furukawa M, Kusunoki T, Saji M, Ogawa K, Ikeda K.
  • Organizer: The 32nd Association for Research Otolaryngology
  • Year and Date: 20090000
• [Presentation] Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice. (2009)
  • Author(s): Inoshita A, Iizuka T, Okamura HO, Minekawa A, Kojima K, Furukawa M, Kusunoki T, Ikeda K.
  • Organizer: The 32nd Association for Research Otolaryngology
  • Year and Date: 20090000