The elucidation of mechanism of hyperkeratosis and development of protein replacement therapy in patients with Mal de Meleda.

2017 Fiscal Year Final Research Report

• Project/Area Number: 26461653
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Hirosaki University
• Principal Investigator: Nakajima Koji 弘前大学, 医学研究科, 助教 (70374832)
• Co-Investigator(Kenkyū-buntansha): 赤坂 英二郎 弘前大学, 医学部附属病院, 助教 (30436034) ; 六戸 大樹 弘前大学, 医学研究科, 助教 (50436036)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: 遺伝子 / 遺伝病 / 皮膚 / 角化

Outline of Final Research Achievements

Mal de Meleda is an autosomal recessive palmoplantar keratosis and shows severe transgradient hyperkeratosis. Recently, the causative gene is demonstrated to be the SLURP1 gene. In this study, analysis of the SLURP1 gene in patients with palmoplantar keratosis tried to detect the gene mutations. We cultured keratinocytes and fibroblasts from the patients and examined gene and protein expressions of the SLURP1 gene. Also, we introduced the expression vector of the SLURP1 cDNA to the patient cells and examined the expressions of the gene related with keratinization. These results show in part the mechanisms of hyperkeratosis seen in the patients.

Free Research Field

皮膚科学