| Project/Area Number |
16K15474
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Neurology
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| Research Institution | Tohoku University |
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Principal Investigator |
Aoki Masashi 東北大学, 医学系研究科, 教授 (70302148)
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| Co-Investigator(Kenkyū-buntansha) |
割田 仁 東北大学, 大学病院, 助教 (30400245)
鈴木 直輝 東北大学, 大学病院, 助教 (70451599)
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2017: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 封入体筋炎 / 筋疾患 / 次世代シークエンサー / iPS細胞 / 共培養モデル |
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| Outline of Final Research Achievements |
As for sIBM, patient samples were collected and clinical information was also collected at the same time. The significance of autoantibody pathology in patient serum was analyzed by human serum and mouse experiment in collaboration with Kumamoto University. CD56 positive skeletal myoblasts from some skeletal muscles were collected and established from 8 sIBM cases. RNA sequencing was performed on 4 cases of sIBM. Including comparison with 9 hereditary inclusive body myopathies, disease-related reported mutations and rare variants were extracted. We are also analyzing mice model based on proteasome dysfunction hypothesis.
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