Molecular genetic analysis of familial inclusion body myositis

2021 Fiscal Year Final Research Report

• Project/Area Number: 18K15440
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: The University of Tokyo
• Principal Investigator: Kubota Akatsuki 東京大学, 医学部附属病院, 助教 (30771589)
• Project Period (FY): 2018-04-01 – 2022-03-31
• Keywords: 封入体筋炎

Outline of Final Research Achievements

Inclusion body myositis (IBM) is a rare sporadic inflammatory myopathy and usually is not inherited. However, we found a family with two patients with IBM and hypothesized that a genetic factor might cause IBM in the family. DNA samples of the family members were extracted from peripheral white blood cells after written informed consents were obtained. Linkage analysis showed an elevated LOD score of approximately 1 in a wide range of X chromosome. Haplotype analysis showed that a region of 1.1Mb in Xp22 was shared only in patients. Whole-exome sequencing showed no rare variants in the shared region.

Free Research Field

筋疾患

Academic Significance and Societal Importance of the Research Achievements

封入体筋炎は病態不明の炎症性筋疾患で、現時点では治療法は存在しない。本研究では家族性封入体筋炎の遺伝子解析を通じて病態解明を試みた。家系の情報からX染色体潜性遺伝が考えられたがエクソン領域に稀な変異は認めなかったことから、今後はイントロン領域の解析が検討される。更なる遺伝的検討により封入体筋炎の病態解明が期待される。