A possible role of LEMD3 mutation to cause increase of collagenous fiber

2015 Fiscal Year Final Research Report

• Project/Area Number: 25860928
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hirosaki University
• Principal Investigator: KOREKAWA Ayumi 弘前大学, 医学部附属病院, 医員 (70436020)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 真皮 / コラーゲン / LEMD3 / 繊維芽細胞 / 骨 / ケロイド

Outline of Final Research Achievements

Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant condition characterized by thedevelopment of multiple connective tissue naevi in association with osteopoikilosis and occasionally melorheostosis.The clinical expression of this syndrome is quite variable.BOS results from loss-of-function mutations in the LEMD3 gene.In 2013, we examined the function of LEMD3 gene in normal fibroblasts.In 2014,we picked up the skin tssues of two patients afected BOS, and examined the function of some genes that are closely related to fibrosis. Also, we tried to incorporate those genes into the finbroblasts of patients. In 2015, we examined the function of LEMD3 gene in keloid. And, we got skin tissues from surgical supecimens of collagen disorders such as keloido and dermatofibroma,then extracted RNA from those tissues and selectively stained them in order to examined the function of LEMD3 gene.

Free Research Field

遺伝性皮膚疾患