Validation of a mechanism for the pathogenesis of multiple cystic kidney disease based on DNA mutations induced by dietary stimulation.
| Project/Area Number |
18K11141
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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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| Review Section |
Basic Section 59040:Nutrition science and health science-related
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| Research Institution | Fujita Health University |
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Principal Investigator |
Kugita Masanori 藤田医科大学, 病態モデル先端医学研究センター, 講師 (50440681)
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| Co-Investigator(Kenkyū-buntansha) |
熊本 海生航 藤田医科大学, 病態モデル先端医学研究センター, 講師 (10469322)
吉村 文 藤田医科大学, 病態モデル先端医学研究センター, 講師 (90466483)
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2019: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | polycystic kidney / animal model / 多発性嚢胞腎症 / モデル動物 |
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| Outline of Final Research Achievements |
Polycystic kidney disease (PKD) is caused by mutations in the PKD1 gene. Approximately 11% of PKD1 mutations are nonsense mutations, which stop translation, and the majority of the rest are amino acid substitution mutations. Nonsense mutations cause more severe PKD. However, it was not known which sites of amino acid substitution mutations influence the pathogenesis of PKD. Therefore, we generated several knock-in mice carrying a single amino acid mutation in the Pkd1 gene and analyzed them to determine the effect of the mutation on the pathogenesis of PKD.
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| Academic Significance and Societal Importance of the Research Achievements |
腎臓に多数の嚢胞ができる多発性嚢胞腎症（PKD）は、PKD1及びPKD2遺伝子に変異が入ることにより発症する。本研究では、PKD1及びPKD2遺伝子産物が作る複合体の構造とヒトPKD患者のデータベースを参照することに各種Pkd1ノックインマウスを作成して、1アミノ酸を変えるだけでPKDの病態が異なることを示した。これらPkd1ノックインマウスを用いてPkd1遺伝子の機能解析を進めていけば、PKDの発症機序や新規治療薬の開発につながると考える。
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Report
(6 results)
Research Products
(15 results)
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[Presentation] Mitochondrial Morphological Abnormality in Cyst Epithelial Cells of Autosomal Dominant Polycystic Kidney Disease Patients.2018
Author(s)
Yu Ishimoto, Akira Shimizu, Masanori Kugita, Shizuko Nagao, Kenjiro Honda, Reiko Inagi, Masanomi Nangaku, Saori Nishio, Haruna Kawano, Shigeo Horie, Tomoko Kasahara, Kenji Osafune, Junichi Hoshino, Yoshifumi Ubara
Organizer
Kidney week 2018
Related Report
Int'l Joint Research
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