Molecular genetic analysis of familial inclusion body myositis
Project/Area Number |
18K15440
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Research Category |
Grant-in-Aid for Early-Career Scientists
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Allocation Type | Multi-year Fund |
Review Section |
Basic Section 52020:Neurology-related
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Research Institution | The University of Tokyo |
Principal Investigator |
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Project Period (FY) |
2018-04-01 – 2022-03-31
|
Project Status |
Completed (Fiscal Year 2021)
|
Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2021: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2020: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
|
Keywords | 封入体筋炎 / 遺伝子 / 連鎖解析 |
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.
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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。
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Report
(5 results)
Research Products
(5 results)
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[Journal Article] Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy2022
Author(s)
Akatsuki Kubota, Jun Shimizu, Atsushi Unuma, Meiko Maeda, Yuichiro Shirota, Masato Kadoya, Naohiro Uchio, Yoshio Sakiyama, Noritoshi Arai, Yasushi Shiio, Yoshikazu Uesaka, Hideji Hashida, Nobue K Iwata, Jun Goto, Ran Nakashima, Tsuneyo Mimori, Tatsushi Toda
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Journal Title
Neuromuscular Disorders
Volume: 32(1)
Issue: 1
Pages: 25-32
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism2022
Author(s)
Akatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, Masaki Tanaka, Jun Mitsui, Atsushi Unuma, Hisataka Maki, Issei Komuro, Shoji Tsuji, Jun Shimizu, Tatsushi Toda
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Journal Title
Neuromuscular Disorders
Volume: 32(3)
Issue: 3
Pages: 263-269
DOI
Related Report
Peer Reviewed / Open Access
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