Elucidating the molecular pathology of inclusion body myositis using novel culture system and next generation sequencer

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K15474
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: Tohoku University
• Principal Investigator: Aoki Masashi 東北大学, 医学系研究科, 教授 (70302148)
• 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)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 封入体筋炎

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.

Free Research Field

神経内科学