| Project/Area Number |
23249058
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
AKIYAMA Masashi 名古屋大学, 医学(系)研究科(研究院), 教授 (60222551)
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| Co-Investigator(Kenkyū-buntansha) |
OGAWA Yasushi 名古屋大学, 医学部附属病院, 病院助教 (10567754)
KONO Michihiro 名古屋大学, 医学系研究科, 講師 (60319324)
ABE Riichiro 北海道大学, 医学研究科, 准教授 (60344511)
SUGIURA Kazumitsu 名古屋大学, 医学系研究科, 准教授 (70335032)
MURO Yoshinao 名古屋大学, 医学系研究科, 准教授 (80270990)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥48,360,000 (Direct Cost: ¥37,200,000、Indirect Cost: ¥11,160,000)
Fiscal Year 2013: ¥7,800,000 (Direct Cost: ¥6,000,000、Indirect Cost: ¥1,800,000)
Fiscal Year 2012: ¥16,640,000 (Direct Cost: ¥12,800,000、Indirect Cost: ¥3,840,000)
Fiscal Year 2011: ¥23,920,000 (Direct Cost: ¥18,400,000、Indirect Cost: ¥5,520,000)
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| Keywords | 皮膚病理学 / 角化異常症 / 魚鱗癬 / ABCA12 / フィラグリン / マウスモデル / 遺伝子治療 |
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| Research Abstract |
In the present study, we established ABCA12-mutant mice harboring ABCA12 partial loss-of-function mutations, as model mice for congenital ichthyosiform erythroderma. In the model mice, we evaluated the up-regulation effects on ABCA12 gene expression by various compounds, which were expected to have up-regulation effects on ABCA12 gene expression. As for the compounds which were proved to have up-regulation effects on ABCA12 gene expression, we further investigated treatment efficacy of the up-regulators of ABCA12 gene expression in the model mice, by monitoring ichthyosis phenotype recovery and restoration of skin barrier function.
In addition, we also established model mice carrying ABCA12 loss-of-function mutations as a model of harlequin ichthyosis. Using the model mice, we evaluated treatment efficacy of various read-through compounds to harlequin ichthyosis phenotypes by monitoring restoration of the stratum corneum barrier function and phenotype recovery.
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