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Molecular-based analysis of autosomal dominant woolly hair/hypotrichosis

Research Project

Project/Area Number 17K16329
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionNiigata University

Principal Investigator

Fujimoto Atsushi  新潟大学, 医歯学総合病院, 講師 (10571937)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Keywords遺伝性毛髪疾患 / 縮毛症 / 乏毛症 / ケラチン71 / 毛包分化 / 皮膚科学 / 皮膚病態学 / 遺伝子 / 毛髪疾患 / 遺伝性皮膚疾患
Outline of Final Research Achievements

Autosomal dominant woolly hair and hypotrichosis (ADWH/H) are caused by mutations in the Keratin71 gene. However, the pathomechanism remains still unclear.
The purpose of this study is to clarify the effect of a novel mutation of karatin71 (Krt71) obtained from a mouse exhibiting woolly hair on the morphology of hair follicles. By immunofluorescence double staining, cultured cells introduced with mutant Krt71 did not form keratin intermediate filaments (KIFs) and aggregated around the nucleus. The mutant keratin71 was considered to have some influence on the dimer formation with endogenous type I keratin in cultured cells. These results suggest that the abnormal morphology of the hair follicle epithelium caused by the Krt71 mutation is important for the development of woolly hair.

Academic Significance and Societal Importance of the Research Achievements

遺伝性毛髪疾患は極めて稀な疾患であり、実際の患者数は決して多くない。しかし、遺伝性毛髪疾患の発症するメカニズムを解明することで、毛髪の形状や太さ、長さ、数などの異常がなぜ起きるかを説明できるかもしれない。本研究では、ケラチン71というタンパク質の異常によって毛の工場である「毛包」の形に異常をきたすことが示され、カールした髪の毛ができるメカニズムの一部が明らかにされた。この研究がさらに進めば、将来的には髪の毛の形状を自由にコントロールできるようになるかもしれない。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (2 results)

All 2020 2019

All Journal Article (2 results) (of which Peer Reviewed: 2 results)

  • [Journal Article] Case of toxic epidermal necrolysis successfully treated with repeated i.v. immunoglobulin2020

    • Author(s)
      Tomii Koichi、Deguchi Tokiko、Katsumi Tatsuya、Suzuki Takeo、Fujimoto Atsushi、Miida Hiroshi、Abe Riichiro
    • Journal Title

      The Journal of Dermatology

      Volume: なし Issue: 7

    • DOI

      10.1111/1346-8138.15356

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Erythema dyschromicum perstans with a Wagyu beef‐like appearance on dermoscopy2019

    • Author(s)
      Tomii K.、Fujimoto A.、Yokoyama R.、Kabata Y.、Fujita S.、Hayashi R.、Abe R.
    • Journal Title

      Journal of the European Academy of Dermatology and Venereology

      Volume: 34 Issue: 3 Pages: 141-142

    • DOI

      10.1111/jdv.16096

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed

URL: 

Published: 2017-04-28   Modified: 2021-02-19  

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