| Project/Area Number |
15K08210
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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 |
Environmental physiology(including physical medicine and nutritional physiology)
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| Research Institution | Yamaguchi University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
森本 幸生 国際医療福祉大学, 福岡保健医療学部, 教授 (50202362)
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 心筋症 / 次世代シーケンサー / 変異 / 後天的 / 次世代シーケンス解析 / 孤発性 / ゲノム編集 / ノックインマウス / 酸化ストレス / 心臓 / 遺伝子変異 |
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| Outline of Final Research Achievements |
The environmental stresses induce somatic mutations in various organs and the mutations are often involved in lethal diseases such as cardiomyopathy and cancer. It is difficult to find the somatic mutations, because the mutations are present in the specific regions of the tissues. In order to elucidate tissue-specific stress-induced mutations, we established to accurately analyze point mutations with a next-generation sequencer using the extracting highly pure DNA from diseased tissues, and identified a novel mutation of acquired cardiomyopathy.
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| Academic Significance and Societal Importance of the Research Achievements |
拡張型心筋症は、遺伝性のケースと孤発的に発症するケースがある。孤発性心筋症は様々な環境因子が作用しているが、遺伝子変異が心臓組織のみ発現しているため、変異解析は困難であった。そこで微量ですべての変異を検出する技術を開発し、孤発性拡張型心筋症の新規変異を発見した。今後の心筋症の治療に大きな進展をもたらすと考えている。
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