Molecular-based analysis of autosomal dominant woolly hair/hypotrichosis

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K16329
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Niigata 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
• Keywords: 遺伝性毛髪疾患 / 縮毛症 / 乏毛症 / ケラチン71

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.

Free Research Field

遺伝性毛髪疾患、炎症性角化症

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。