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Research on clinical feature and onset mechanism of deafness caused by mitochondrial DNA mutations

Research Project

Project/Area Number 15K20199
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Otorhinolaryngology
Research InstitutionShinshu University

Principal Investigator

Yano Takuya  信州大学, 医学部附属病院, 特任研究員 (10511058)

Research Collaborator USAMI Shin-ichi  信州大学, 学術研究院医学系, 教授 (10184996)
NISHIO Shin-ya  信州大学, 学術研究院医学系, 助教 (70467166)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords難聴 / 遺伝子 / ミトコンドリア
Outline of Final Research Achievements

causative mitochondrial DNA (mtDNA) mutations have been found in 50% of patients with postlingual nonsyndromic hearing loss.
In this study, we performed DNA sequencing analysis of whole mitochondrial genome for 400 unrelated Japanese hearing loss patients. As a result, we obtained the mutation spectrum and frequency of mitochondrial mutations in Japanese hearing loss patients and we also clarified clinical feature of each mitochondrial mutations. m.1555A>G mutation was preferentially observed in late onset mild to moderate hearing loss cases, whereas, m.3243A>G mutation was observed among wide range of clinical phenotype patients. In addition, we also established cell line from mitochondrial mutation patient and analyzed its function.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (3 results)

All 2018 2017

All Journal Article (1 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 1 results) Presentation (2 results)

  • [Journal Article] A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.2018

    • Author(s)
      Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
    • Journal Title

      Acta Otolaryngol.

      Volume: 1 Issue: 8 Pages: 708-712

    • DOI

      10.1080/00016489.2018.1441545

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] 先天性サイトメガロウイルス感染による難聴ー長野県新生児9.000名に対するスクリーニングプロジェクト2017

    • Author(s)
      茂木英明、西尾信哉、宮川麻衣子、矢野卓也、岩崎聡、宇佐美真一
    • Organizer
      第118回日本耳鼻咽喉科学会学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 眼振検査支援システム(C-Nys)上でのEpley法記録シートの活用ー施行中の眼振と経過についてー2017

    • Author(s)
      工 穰、中村正、福岡久邦、矢野卓也、塚田景大、池田卓生、宇佐美真一
    • Organizer
      第76回日本めまい平衡医学会
    • Related Report
      2017 Annual Research Report

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Published: 2015-04-16   Modified: 2019-03-29  

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