Mechanism of Koebner phenomenon in CHILD syndrome
| Project/Area Number |
15K09782
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Keio University |
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Principal Investigator |
Umegaki Noriko 慶應義塾大学, 医学部(信濃町), 助教 (80397629)
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| Co-Investigator(Kenkyū-buntansha) |
久保 亜紀子 慶應義塾大学, 医学部(信濃町), 特任講師 (50455573)
久保 亮治 慶應義塾大学, 医学部(信濃町), 准教授 (70335256)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | ケブネル現象 / CHILD症候群 / コレステロール合成 / コレステロール代謝 / NSDHL |
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| Outline of Final Research Achievements |
CHILD syndrome is a genetic disorder associated with a mutation of the NSDHL gene. The patients with CHILD syndrome present scaly erythema with Koebner phenomenon, however the mechanism of the skin eruption has been unclear. In this study, we performed Gas Chromatography Mass Spectrometrythe (GC-MS) to analyze of the detailed cholesterol metabolites in CHILD syndrome and detected several unusual cholesterol metabolites in the affected skin. We also performed GC-MS using HaCaT cells treated by NSDHL inhibitor and detected identical unusual cholesterol metabolites, suggesting that our culture system could mimic the affected skin in CHILD syndrome in vitro.
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| Academic Significance and Societal Importance of the Research Achievements |
遺伝性コレステロール生合成経路の異常症であるCHILD症候群患者の皮膚におけるコレステロール代謝産物について詳細に解析し、異常な蓄積中間代謝物が表皮角化細胞の分化・増殖や免疫系に与える影響を検討した。異常な脂質代謝物が皮膚炎を惹起するメカニズムを明らかにすることで、将来的に皮膚の脂質異常による皮膚炎の治療の開発につながると考えられる。
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Report
(4 results)
Research Products
(17 results)
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[Journal Article] Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5.2017
Author(s)
Kumagai Y, Umegaki-Arao N, Sasaki T, Nakamura Y, Takahashi H, Ashida A, Tsunemi Y, Kawashima M, Shimizu A, Ishiko A, Nakamura K, Tsuchihashi H, Amagai M, Kubo A.
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Journal Title
J Eur Acad Dermatol Venereol.
Volume: May;31(5)
Issue: 5
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] LMX1B with an inframe indel mutation in a familial case of nail patella syndrome shows loss of its transcriptional activity2017
Author(s)
Miho Mukai, Harumi Fujita, Noriko Umegaki-Arao, Takashi Sasaki, Fumiyo Yasuda, Hayato Takahashi, Tsuyoshi Isojima, Sachiko Kitanaka, Masayuki Amagai, Akiharu Kubo,
Organizer
第42回 日本研究皮膚科学会
Related Report
Int'l Joint Research
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