Epidemiology and pathological elucidation of focal segmental glomerulosclerosis in Japan
| Project/Area Number |
16K10057
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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 |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
沼倉 周彦 山形大学, 医学部, 講師 (00400549)
早坂 清 山形大学, 医学部, 名誉教授 (20142961)
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| Project Period (FY) |
2016-04-01 – 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 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 遺伝性腎疾患 / エクソーム解析 / ステロイド抵抗性ネフローゼ症候群 / 巣状分節性糸球体硬化症 / クリニカルシーケンス / 日本人遺伝的背景 / genetic FSGS / 末期腎不全 / 次世代シーケンサ / 次世代シークエンサー |
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| Outline of Final Research Achievements |
To date, there are many causative genes in focal segmental glomerulosclerosis / steroid-resistant nephrotic syndrome (FSGS / SRNS), however, there are very few data of Japanese people. Exome analysis was performed on Japanese FSGS / SRNS patients, and gene mutations confirmed in half of FSGS / SRNS renal transplant patients and reported that NUP107 gene was the most frequent causative gene. We also reported a Japanese FSGS case with a novel NUP93 gene mutation, and analyzed its pathogenic function.
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| Academic Significance and Societal Importance of the Research Achievements |
疾患を起こしている原因遺伝子により治療方針や予後が大きく異なるため、その遺伝子診断が非常に重要である。また日本人は欧米人と違う遺伝的背景をもっており、将来的にクリニカルシーケンス体制を整えるために日本人データを蓄積していくことは必須であり、また今後もさらに継続する必要性がある。また、特に日本人特有の病原性不明なバリアントについて、積極的に機能解析を追加することで意義不明な変異の病原性が明らかにすることができた。
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Report
(5 results)
Research Products
(6 results)
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[Journal Article] In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis.2019
Author(s)
Hashimoto T, Harita Y, Takizawa K, Urae S, Ishizuka K, Miura K, Horita S, Ogino D, Tamiya G, Ishida H, Mitsui T, Hayasaka K, Hattori M.
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Journal Title
Kidney Int Rep
Volume: 4(9)
Issue: 9
Pages: 1312-1322
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Clinicopathological characterization of steroid-resistant nephrotic syndrome caused by NUP107 mutations2018
Author(s)
Hashimoto T, Harita Y, Miura K, Ishizuka K, Akioka Y, Hisano M, Horie H, Matsumura C, Tamiya G, Ogino D, Mitsui T, Hayasaka K, Hattori M
Organizer
第16回日韓中小児腎セミナー 韓国、釜山
Related Report
Int'l Joint Research
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