To develop a novel method to establish the diagnosis of BHD syndrome

2015 Fiscal Year Final Research Report

• Project/Area Number: 25670402
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Respiratory organ internal medicine
• Research Institution: Juntendo University
• Principal Investigator: SEYAMA KUNIAKI 順天堂大学, 医学部, 准教授 (10226681)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: BHD症候群 / FLCN遺伝子 / 生殖細胞系列変異 / folliculin / ウェスタンブロット法

Outline of Final Research Achievements

Birt-Hogg-Dube syndrome (BHDS) is a hereditary genodermatois and charcterized by fibrofolliculomas of the skin, pulmoary cysts with/without pneumothorax, and renal tumors. FLCN genetic testing is required to establish the diagnosis. In this project, we examined the expression of the FLCN gene and the amount of folliculin protein in peripheral blood mononuclear cells (PBMC) from BHDS patients to see whether these analyses have a diagnostic significance. Real-time PCR revealed no significant difference in the FLCN expression by PBMC between normal subjects and BHDS patients. Furthermore, no significant differecen in the amount of wild-type folliculin protein was found in PBMC between normal subjects and BHDS patients. Interstingly, the amount of wild-type folliculin protein in PBMC varied among unrelated BHDS patients who had the identical germline FLCN mutataion.

Free Research Field

呼吸器病学