Analysis of molecular mechanisms switching from TRPV3 gene abnormalities to palmoplantar keratoderma.

2014 Fiscal Year Final Research Report

• Project/Area Number: 25670497
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hirosaki University
• Principal Investigator: SAWAMURA Daisuke 弘前大学, 医学(系)研究科(研究院), 教授 (60196334)
• Co-Investigator(Kenkyū-buntansha): AIZU Takayuki 弘前大学, 大学院医学研究科, 助教 (00400135) ; NAKAJIMA Koji 弘前大学, 大学院医学研究科, 助教 (70374832)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 遺伝子 / 角化 / 掌蹠 / 温度 / 表皮細胞

Outline of Final Research Achievements

There are many types of hereditary palmoplantar keratoderma, but causative genes and mechanisms of hyperkeratosis of some types of disease have not been elucidated yet. Recently, our group study hereditary palmoplantar keratoderma extensively. Olmsted syndrome is rare genodermatodes and shows alopecia, periorificial keratoderma and severe itching. The gain-of-function mutation in the gene of TRPV3, which is a Ca2+ channel, is found to cause Olmsted syndrome recently. In this study, we clarify causative mutations in several similar hereditary palmoplantar keratodermas and compare hyperkeratosis mechanisms in Olmsted syndrome and the other palmoplantar keratodermas. Furthermore, we examined model rat of Olmsted syndrome which has the gain-of-function mutation in the gene of TRPV3.

Free Research Field

皮膚科学