| Project/Area Number |
17K16086
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Kidney internal medicine
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| Research Institution | Kobe University |
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Principal Investigator |
Fujimura Junya 神戸大学, 医学研究科, 特命助教 (10793713)
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| Research Collaborator |
Iijima Kadumoto
Nozu Kandai
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | ADPKD / 次世代シークエンサー / two-hit theory / 嚢胞腎 / second-hit theory / 遺伝子 / 医療 / ゲノム |
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| Outline of Final Research Achievements |
We investigated and elucidated two-hit theory using blood samples and isolated kidneys of patients for the purpose of elucidation of the pathophysiology of autosomal dominant poly cystic kidney disease (ADPKD), and finally from the findings The research was conducted in order to find out the possibility of new treatment. Analysis with NGS of the case where consent was obtained and direct confirmation with Sanger method were performed. In order to improve the search efficiency of screening, we are trying to create a disease panel specialized for PKD1 and PKD2 genes.
We did examining DNA extracted from patient's blood-derived DNA as well as DNA extracted from cystic epithelial cells of the kidney, which were isolated from the patient, and refer to the past literature for techniques for establishing cultured cells using tissue fragments from the isolated kidney established and standardized the procedure.
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| Academic Significance and Societal Importance of the Research Achievements |
常染色体優性多嚢胞腎（ADPKD）は最も発症頻度の高い遺伝性腎疾患で60歳までに約半数が末期腎不全に至る。その発症仮説として先天性のPKD遺伝子異常に加え、生後の対立遺伝子への変異挿入やその他の刺激により発症する“Two-hit theory”が有力と考えられている。Two-hit theoryにおけるSecond hitの本体を解明することを目的として解析をおこなった。現在2つの変異が数例の血液検体から見つかっている。
この病態理論の解明をすることで新たな治療の知見が得られる可能性がある。
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