Comprehensive analysis of mitochondrial DNA mutations in inner ear cells of patients with presbycusis

2012 Fiscal Year Final Research Report

• Project/Area Number: 22791577
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Otorhinolaryngology
• Research Institution: Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology
• Principal Investigator: KATO Tomofumi 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 研究員 (80469965)
• Project Period (FY): 2010 – 2012
• Keywords: 耳科学 / 老人性難聴 / ミトコンドリアDNA / 遺伝子解析

Research Abstract

We studied the association between the presbycusis and the mutations or the polymorphisms of mitochondrial DNA. Also we compared the patients with suspected hereditary hearing loss with controls. We demonstrated that haplogroup D4b is related to the phenotypic expression of hereditary hearing loss.

Research Products

• [Journal Article] Extended Screening for Major Mitochondrial DNA Point Mutations in Patients with Hereditary Hearing Loss. (2012)
  • Author(s): Kato T, Nishigaki Y, Noguchi Y, et al.
  • Journal Title: J Hum Genet. Volume: 57 Pages: 772-5
• [Journal Article] Mitochondrial DNA Haplogroup associated with Hereditary Hearing Loss in a Japanese Population. (2012)
  • Author(s): Kato T, Fuku N, Noguchi Y, et al.
  • Journal Title: Acta Otolaryngol. Volume: 132 Pages: 1178-82
• [Presentation] Mitochondrial Haplogroup Analysis in Patients with Hereditary Hearing Loss (2012)
  • Organizer: The 35^<th> annual midwinter research meeting of the Association for Research in Otolaryngology
  • Place of Presentation: San Diego, USA
  • Year and Date: 20120200
• [Presentation] Mitochondrial DNA Haplogroup Analysis Associated with Presbycusis in a Japanese Population (2012)
  • Organizer: The First Asian Otology Meeting & the 3^<rd> East Asian Symposium on Otology
  • Place of Presentation: Nagasaki
  • Year and Date: 2012-06-02
• [Presentation] 遺伝性難聴疑い症例のミトコンドリアハプログループ解析 (2011)
  • Organizer: 第21回日本耳科学会総会・学術講演会
  • Place of Presentation: 沖縄市
  • Year and Date: 20111100
• [Presentation] Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss (2010)
  • Organizer: The 7^<th> Conference of Asian Society for Mitochondrial Reseach and Medicine
  • Place of Presentation: Fukuoka
  • Year and Date: 20101200
• [Presentation] Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss (2010)
  • Organizer: 2^<nd> East Asian Symposium on Otology
  • Place of Presentation: Taipei, Taiwan
  • Year and Date: 20101100
• [Presentation] 遺伝性難聴症例に対する網羅的・迅速検出法を用いた主要ミトコンドリアDNA点変異の解析<第2報> (2010)
  • Organizer: 第20回日本耳科学会総会・学術講演会
  • Place of Presentation: 松山市
  • Year and Date: 20101000