| Project/Area Number |
24659753
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | 独立行政法人国立病院機構(東京医療センター臨床研究センター) |
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Principal Investigator |
MATSUNAGA Tatsuo 独立行政法人国立病院機構(東京医療センター臨床研究センター), 聴覚障害研究室, 室長 (90245580)
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| Co-Investigator(Kenkyū-buntansha) |
SHIMIZU Atsushi 岩手医科大学, いわて東北メディカル・メガバンク機構, 教授 (30327655)
MIYA Fuyuki 独立行政法人理化学研究所, ゲノム医科学研究センター情報解析研究チーム, 研究員 (50415311)
MUTAI Hideki 国立病院機構東京医療センター, 臨床研究センター・聴覚障害研究室, 研究員 (60415891)
KUDOU Jun 慶応義塾大学, 医学研究科, 教授 (80178003)
SUZUKI Naohiro 国立病院機構東京医療センター, 臨床研究センター, 研究員 (90611195)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 遺伝性難聴 / 蝸牛低形成 / 蝸牛神経低形成 / 次世代シーケンサー / エクソーム解析 / 新規疾患遺伝子 |
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| Research Abstract |
Cochlea dysplasia and the associated feature, cochlear nerve dysplasia have been difficult to provide clinical treatment, while the cause of the diseases is largely unknown. We conducted whole exome analysis of the families associated with these symptoms by Next Generation Sequencer and identified 2 novel candidate responsible genes. A candidate gene X appeared to be expressed in cochlear nerve, and was suggested to associate with neurite extension in our immunohistochemical and in vitro studies. The other candidate gene Y has already been shown to have significant role in inner ear development in mouse model, and was finally suggested to cause cochlea dysplasia in human in this study. Our results expanded our understanding of molecular pathology of cochlea and cochlear nerve dysplasia and will lead to development of better diagnosis and treatment.
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