Identification of the gene that causes insulin resistance syndrome using exome sequencing and iPS cells.
| Project/Area Number |
16K09750
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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 |
Metabolomics
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| Research Institution | Kobe University |
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Principal Investigator |
Hirota Yushi 神戸大学, 医学部附属病院, 助教 (80566018)
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| Research Collaborator |
Ogawa Wataru
Aoi Takashi
Satake Wataru
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | インスリン抵抗症 / エクソーム解析 / iPS細胞 / SHORT症候群 / PIK3R1遺伝子 / 糖尿病 / エネルギー・糖質代謝異常 |
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| Outline of Final Research Achievements |
As a result of exome analysis aiming at identification of the causative gene of the insulin resistance family, PIK3R1 gene c.1945C> T mutation was identified.
In order to clarify the function of this mutation, we established iPS cells from probands and induced differentiation into hepatocytes. Compared with hepatocytes derived from healthy person-derived iPS cells, Akt phosphorylation upon addition of insulin was significantly suppressed, suggesting that the PIK3R1 abnormality suppresses the insulin action.
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| Academic Significance and Societal Importance of the Research Achievements |
本インスリン抵抗症家系の原因遺伝子はPIK3R1遺伝子であったが、SHORT症候群の原因遺伝子として海外から2013年に報告されていた。しかし日本人を初めとした東アジア人では初の報告となり、顔貌などの特徴が世界共通であることが明らかとなった。また、PIK3R1遺伝子の疾患iPS細胞を作成したが、この疾患iPS細胞は世界で始めてのものであり意義は大きい。
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Report
(4 results)
Research Products
(5 results)
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[Journal Article] Treatment of a case of severe insulin resistance due to a PIK3R1 mutation with a sodium-glucose cotransporter-2 inhibitor.2018
Author(s)
Hamaguchi T, Hirota Y, Takeuchi T, Nakagawa Y, Matsuoka A, Matsumoto M, Awano H, Iijima K, Cha PC, Satake W, Toda T, Ogawa W.
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Journal Title
J Diabetes Investig.
Volume: 9
Issue: 5
Pages: 1224-1227
DOI
Related Report
Peer Reviewed / Open Access
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