comprehensive elucidation of pathophysiology of reticulate acropigmentation of Kitamura and development of therapeutic agents using model mice and antibody arrays

2020 Fiscal Year Final Research Report

• Project/Area Number: 17K10240
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Dermatology
• Research Institution: Akita University (2020); Nagoya University (2017)
• Principal Investigator: Kono Michihiro 秋田大学, 医学系研究科, 教授 (60319324)
• Co-Investigator(Kenkyū-buntansha): 秋山 真志 名古屋大学, 医学系研究科, 教授 (60222551)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 網状肢端色素沈着症 / ADAM10

Outline of Final Research Achievements

The reticulate acropigmentation of Kitamura is a hereditary pigmentary disorder of autosomal dominant inheritance in which punctate or reticulated pigmented spots appeared on the back of the hands and feet. In 2013, we revealed that the causative gene for RAK was ADAM10 by exome sequencing. Therefore, in the present research, we aimed to elucidate the pathophysiology and to develop therapeutic agents. Regarding the elucidation of the pathophysiology, we have tried finding the substrate proteins of ADAM10 in the skin, but we could not earn any candidate molecules. Regarding the development of therapeutic agents, we developed a rapid screening system and it was used to screen the drug library to identify new candidate drugs. Unfortunately, no candidate drug was obtained.

Free Research Field

皮膚科

Academic Significance and Societal Importance of the Research Achievements

網状肢端色素沈着症は点状もしくは網状の色素斑が手背足背に出現する常染色体優性遺伝形式の遺伝性色素異常症ですが、治療法がまだありません。常染色体優性遺伝形式のため、患者さんは次世代への遺伝も1／2で起こるため、心理的な負担が大きく、そのため、患者さんやその家族は長年治療法を待ち望んでいます。本研究によって本疾患の病態解明や治療法の端緒となる可能性があります。