2014 Fiscal Year Final Research Report
To elucidate pathomechanisms of myopathies associated with nuclear envelopathy
| Project/Area Number |
24390227
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Tokyo Medical University (2013-2014)
National Center of Neurology and Psychiatry (2012) |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
OHISA Satoshi 独立行政法人国立精神・神経医療研究センター, 神経研究所・疾病研究第一部, 流動研究員 (90610840)
MATSUDA Chie 東京医科大学, 医学部, 講師 (50344099)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 核膜病 / 病態解析 |
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| Outline of Final Research Achievements |
Nucleus of the cell is surrounded by nuclear membrane and many nuclear membrane proteins are identified. Nuclear membrane is lined by nuclear lamina, and lamins are major components of the nuclear lamina. Nuclear envelopathy is a group of disorders caused by mutations in the genes encoding nuclear lamina or nuclear membrane proteins, and their clinical symptoms are quite variable.
In this study, we used several model mice with the gene mutations in LMNA and/or EMD, and examined their skeletal and cardiac muscles using histopathological, gene expression analyses and obtained some results to understand their pathomechanisms.
We produced a good animal model for muscular dystrophy related nuclear envelopathy. We examined several animal models and found that different gene expression patterns in emerin knockout, LMNA knock-in, and double mutant mice. We also reported that LMNA mutation can cause clinicopathological features mimicking to congenital fiber type disproportion.
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| Free Research Field |
神経内科学
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