| 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)
伊藤 卓 東京医科歯科大学, 医学部附属病院, 助教 (40401400)
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| Budget Amount *help |
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2013: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2012: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2011: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2010: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2009: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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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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