Genetic analysis and establishment of in vitro model for inclusion body myositis

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670436
• 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(研究院), 教授 (70302148)
• Co-Investigator(Kenkyū-buntansha): Kato MASAAKI 東北大学, 病院, 助教 (50622479) ; SUZUKI Naoki 東北大学, 病院, 助教 (70451599) ; WARITA Hitoshi 東北大学, 大学院医学系研究科, 助教 (30400245)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 封入体筋炎

Outline of Final Research Achievements

Sporadic inclusion body myositis (sIBM) is an intractable and progressive skeletal muscle disease of unknown etiology and without effective treatment. Muscle biopsy typically reveals endomysial inflammation, invasion of mononuclear cells into non-necrotic fibers and rimmed vacuoles, suggesting inflammation and degeneration co-exist as part of the pathomechanism. We made muscle specific proteasomal deficient mice and reported in JCS paper. We also found familial case of inclusion body myopathy with the mutation in hnRNPA1. We also established iPS cells from these patients.

Free Research Field

神経内科学