2013 Fiscal Year Final Research Report
Extensive and rapid comprehensive screening for mitochondrial DNA point mutations in patients with hereditary hearing loss and quantitative analysis of mtDNA mutation in the cells of the inner ear
| Project/Area Number |
21390459
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
KITAMURA Ken 東京医科歯科大学, 医歯(薬)学総合研究科, 教授 (90010470)
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| Co-Investigator(Kenkyū-buntansha) |
KIMURA Yurika 東京都健康長寿医療センター, 研究所, 研究員 (40450564)
NOGUCHI Yoshihiro 東京医科歯科大学, 医学部附属病院, 講師 (50282752)
TANAKA Masashi 東京都健康長寿医療センター, 研究所, 研究部長 (60155166)
KATO Tomofumi 東京都健康長寿医療センター, 研究所, 研究員 (80469965)
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| Project Period (FY) |
2009-04-01 – 2014-03-31
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| Keywords | 遺伝子 / 脳・神経 / 神経科学 / 臨床 |
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| Research Abstract |
We analyzed 373 patients with suspected hereditary HL using an extensive and rapid suspension-array screening system for 61 major mtDNA mutations. The m.1555A>G and m.3243A>G mutations were detected in 11 (2.9%) and 9 (2.7%) patients, respectively. In addition, five mutations, that is, m.8348A>G, m.11778G>A, 15498G>A, m.7444G>A, and m.7472C>ins C mutations were detected in one patient for each. This screening system is useful for the genetic diagnosis. We extracted mtDNA using laser capture microdissection method from cells of interest from inner ear taken from patients with m.3243A>G mutations and quantitatively analyzed mtDNA mutation.
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[Journal Article] Phenotypic and Expression Analysis of a Novel Spontaneous MYOSIN VI Null Mutant Mouse2010
Author(s)
Mochizuki E, Okumura K, Ishikawa M, Yoshimoto S, Yamaguchi J, Seki Y, Wada K, Yokohama M, Ushiki T, Tokano H, Ishii R, Shitara H, Taya C, Kitamura K, Yonekawa H, Kikkawa Y
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Journal Title
Exp Anim
Volume: 59(1)
Pages: 57-71
Peer Reviewed
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