2021 Fiscal Year Final Research Report
Elucidation of pathogenic mechanisms of ichthyosis due to epidermal lipid abnormalities and development of novel therapeutic agents
| Project/Area Number |
18H02832
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Review Section |
Basic Section 53050:Dermatology-related
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| Research Institution | Nagoya University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
室 慶直 名古屋大学, 医学系研究科, 准教授 (80270990)
武市 拓也 名古屋大学, 医学系研究科, 講師 (30754931)
河野 通浩 秋田大学, 医学系研究科, 教授 (60319324)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | 遺伝子 / 脂質 / 角化 / 魚鱗癬 / 表皮 |
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| Outline of Final Research Achievements |
The results of this research can be summarized in the following three points. (1) Elucidation of etiology for autosomal recessive congenital ichthyosis patients and aggregation of patient information/samples: We have accumulated autosomal recessive congenital ichthyosis patients nationwide and have identified causative gene mutations in a large number of patients. We have collected the patients’ clinical and genetic information together with biological samples. (2) Elucidation of the pathophysiology of autosomal recessive congenital ichthyosis: We have created autosomal recessive congenital ichthyosis model mice in which causative gene mutations are knocked in. We have analyzed the mice to clarify the pathogenic mechanisms of the disease. (3) Development of etiology-targeting treatments for autosomal recessive congenital ichthyosis: Using the above-mentioned model mice, effectiveness of existing agents to autosomal recessive congenital ichthyosis was evaluated.
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| Free Research Field |
皮膚科学
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| Academic Significance and Societal Importance of the Research Achievements |
本研究では、ゲノム編集技術により、実際の患者での病因遺伝子変異を導入した、真の疾患モデルと言える多系統のノックインマウスを作成するが、この点が大きな学術的意義と言える。さらに、それらのマウスを用いて、表皮脂質異常により魚鱗癬が発症するメカニズムを詳細に解明する点も意義深い。この研究から得られる知見は、魚鱗癬の病態解明に止まらず、人体の恒常性の維持に重要な皮膚角層バリアの形成機序の解明に繋がる。社会的意義としては、本研究の成果として、多くの未診断であった魚鱗癬症例について確定診断、病因の解明がなされた点が挙げられる。
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