Study of pathophysiology and study of severity and prognostic factors of pseudoxanthoma elasticum

2022 Fiscal Year Final Research Report

• Project/Area Number: 21K16231
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 53050:Dermatology-related
• Research Institution: Nagasaki University
• Principal Investigator: IWANAGA Akira 長崎大学, 医歯薬学総合研究科(医学系), 助教 (00621947)
• Project Period (FY): 2021-04-01 – 2023-03-31
• Keywords: Pseudoxanthoma elasticum / Transcriptome

Outline of Final Research Achievements

We focused on the research method of transcriptome analysis to identify the pathophysiological mechanism of pseudoxanthoma elasticum. We extracted and sequenced RNA from lesional and non-lesional skin with PXE patients and healthy control skin to compare the expressed genes. As a result of the comparison, we identified several gene groups that were overexpressed. In order to investigate each relationship, we are analyzing using a program called iDEP.93, but at this time, the pathophysiological mechanism has not been elucidated. We will continue our research to elucidate the pathology.

Free Research Field

皮膚科学

Academic Significance and Societal Importance of the Research Achievements

弾性線維性仮性黄色腫においては、未だ有効な治療法が存在せず、対症療法を行うしかないことが現状である。強力な抗石灰化因子であるピロリン酸の血中濃度が低下することが知られているが、予後や重症度と相関するとする報告はなく、病態メカニズムも明らかにされてはいない。本研究で病態メカニズムが明らかとなれば、今後新たな治療法の開発に繋がるだけでなく、重症度と予後を予測する因子の同定も可能になるのではないかと考える。