The development of new non-invasive therapeutic strategy of dyschromatosis symmetrica hereditaria with topical agent

2015 Fiscal Year Final Research Report

• Project/Area Number: 24591646
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Nagoya University
• Principal Investigator: Kono Michihiro 名古屋大学, 医学(系)研究科(研究院), 講師 (60319324)
• Co-Investigator(Kenkyū-buntansha): AKIYAMA Masashi 名古屋大学, 大学院医学系研究科, 教授 (60222551)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 遺伝性対側性色素異常症 / dyschromatosis / DSH / RNA編集 / 治療 / 遺伝子診断

Outline of Final Research Achievements

Dyschromatosis symmetrica hereditaria (DSH) is a hereditary pigmentary disorder caused by heterozygous mutations in ADAR1 encoding an RNA editing enzyme. The elucidation of pathogenesis and establishment of definitive therapy of DSH have still remained.
This study aimed for development of a novel topical treatment for DSH. At first, we planed identification of candidate compounds which upregulate the RNA editing activity by the drug library screening and, in addition, planed establishment of DSH model mice for evaluation of efficacy of the candidate drugs.
We could not identify a novel agent to up-regulate RNA editing activity within the present study period. Furthermore, we tried to develop a gene modification mouse, but the mouse mimicking the clinical manifestations of the human DSH was not established. Within the present study period, we also performed the genetic diagnosis of several DSH patients and contributed to their final diagnoses.

Free Research Field

皮膚科学