Study for the clinical features and the pathomechanism of autophagic systems in autophagic vacuolar myopathy
| Project/Area Number |
22790826
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | Nara Medical University |
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Principal Investigator |
SUGIE Kazuma 奈良県立医科大学, 神経内科, 講師 (60347549)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2010: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 臨床神経形態学 / 筋病理学 / 臨床神経学 / オートファジー / ミオパチー / Danon病 / 自己貪食空胞 / 自己貪食空胞性ミオパチー / リソソーム / 縁取り空胞 / 縁取り空胞を伴う遠位型ミオパチー |
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| Research Abstract |
Autophagic vacuolar myopathy (AVM) is a very rare progressive muscle disease defined pathologically by the presence of unique autophagic vacuoles inmuscle fibers. The etiology and the pathomechanism of AVM remain unestablished. To gain insights, we performed pathological study and performed a nationwide survey of AVM in Japan. We identified about 50 patients with AVM and elucidated the clinical features of AVM, characterized by lethal cardiomyopathy and skeletal myopathy. Our results indicated that in addition to autophagic/lysosomal pathway, endosomal pathway was also activated. Therefore, we considered that these both pathways may be associated with the degenerative process of muscle fibers in AVM.
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Report
(4 results)
Research Products
(23 results)
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[Journal Article] DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions2013
Author(s)
Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I
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Journal Title
Neuromuscul Disord
Volume: 23(3)
Pages: 269-276
Related Report
Peer Reviewed
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[Journal Article] Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations2012
Author(s)
Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J, Sugie K, Nakamura H, Oya Y, Hayashi YK, Malicdan MC, Noguchi S, Murata M, Nishino I
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Journal Title
J Neurol Sci
Volume: 318(1-2)
Pages: 100-105
Related Report
Peer Reviewed
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