Homeostasis of the epidermal cells and its dysfunction in epidermolysis bullosa

2021 Fiscal Year Final Research Report

• Project/Area Number: 19H03449
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 49030:Experimental pathology-related
• Research Institution: Gunma University
• Principal Investigator: Izumi Tetsuro 群馬大学, 生体調節研究所, 教授 (00212952)
• Co-Investigator(Kenkyū-buntansha): 松永 耕一 群馬大学, 生体調節研究所, 助教 (20570162)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 表皮細胞 / 細胞接着 / 細胞内膜輸送 / Rabタンパク質 / 表皮水疱症

Outline of Final Research Achievements

Genetic mutation of exophilin-5, one of the Rab27 effectors, is known to cause epidermolysis bullosa in humans. However, the molecular mechanism for the function and action mechanism of exophilin-8 in epidermal cells is largely unknown. In this study, we investigated the pathophysiological function of exophilin-8 by exploring interacting proteins, intracellular localization, and phenotypes in knockdown/knockout cells. As a result, we obtained evidence that exophilin-8 is involved in cell adhesion and migration via interactions with proteins constituting hemidesmosomes, desmosomes, and adherence junctions.

Free Research Field

分子細胞生物学

Academic Significance and Societal Importance of the Research Achievements

本研究によって、体の外表を覆う表皮細胞の恒常性を保つ仕組みと共に、その破綻によって起こる、皮膚が脆弱でわずかな外力で全身に水疱、びらんの形成が起こり、未だに対症療法しかない遺伝性疾患の表皮水疱症に関する病態生理に関して、その分子機序の一端が明らかとなった。