structural biology-based translational research in diseases with a focus on hereditary hearing loss
| Project/Area Number |
17K11350
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | National Institutes of Biomedical Innovation, Health and Nutrition |
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Principal Investigator |
Kaneko Hiroki 国立研究開発法人医薬基盤・健康・栄養研究所, 医薬基盤研究所 細胞核輸送ダイナミクスプロジェクト, 客員研究員 (10349946)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2018: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 耳科学 / 構造生物学 / 遺伝性難聴 / 分子発症メカニズム / バイオインフォマティックス |
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| Outline of Final Research Achievements |
In collaboration with the National Hospital Organization Tokyo Medical Center, we analyzed data on various types of hereditary hearing loss collected from hospitals throughout Japan, on the basis of structural biology. The target genes for this study are of various types, including TECTA, PDZD7, OTOF, OPA1, NOG, KCNQ4, and so on. We conducted a multifaceted analysis based on a computational chemistry method for the mutations of EDNRB and GJB2, which are especially important, leading us to propose that a molecular pathogenesis mechanism causes hereditary hearing loss.
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| Academic Significance and Societal Importance of the Research Achievements |
近年、遺伝子疾患について、正常遺伝子の導入やゲノム編集を利用した遺伝子治療法などが開発されつつある。また、患者iPS細胞から作られた内耳細胞に基づく疾患メカニズムの解明と治療薬の開発も行われてきている。しかし、構造生物学的な視点からの病態解析は、遺伝性難聴においてはまだ十分とは言えないという一面もあった。今回、我々が行った立体構造に基づく分子発症機構の解明は、新規な診断法と治療薬の開発、さらに遺伝子治療のための戦略を探るための重要な情報として貢献するものと考える。
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Report
(4 results)
Research Products
(10 results)
