2013 Fiscal Year Final Research Report
distal myopathy with abnormal GNE gene
| Project/Area Number |
23591251
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | Kyushu University of Nursing and Social Welfare (2013)
Oita University (2011-2012) |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
KIMURA Noriyuki 大分大学, 医学部, 講師 (30433048)
NAKAMURA Kenichiro 大分大学, 医学部, 助教 (70608372)
MASUDA Teruaki 大分大学, 医学部, 助教 (50464459)
OKAZAKI Toshio 大分大学, 医学部, 助教 (00464438)
|
|---|
| Project Period (FY) |
2011 – 2013
|
| Keywords | 神経分子病態学 / 遠位型ミオパチー / 縁取り空胞 / GNE / オートファジー / リソソーム / プロテアソーム / 小胞体ストレス |
|---|
| Research Abstract |
In mutant GNE gene-transfected cells and GNE-knockdown cells, the excessive formation of rimmed vacuole and the morphological change of an autophagy-lysosome system structures were not observed, but the level of mTOR phosphorylation increased, suggesting that GNE play a certain role in regulation of an autophagy-lysosome system through mTOR. The VCP/p97-Nfd1-Npl4 complex is suspected to participate in the overdevelopment formation of rimmed vacuoles. IGF-1 or salubrinal treatment may suppress the overdevelopment of rimmed vacuoles due to activation (phosphorylation) of mTOR and/or elF2.
|
-
-
[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
-
Journal Title
J Neurol Sci
Volume: 318(1-2)
Pages: 100-105
DOI
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
