Study on the germline FLCN mutations and the mechanism of pulmonary cyst formation in Birt-Hogg-Dube syndrome

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591177
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Respiratory organ internal medicine
• Research Institution: Juntendo University
• Principal Investigator: KIKKAWA MIKA 順天堂大学, 医学(系)研究科(研究院), 助教 (90327792)
• Research Collaborator: SEYAMA Kuniaki 順天堂大学, 医学部, 専任准教授 (10226681)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: BHD症候群 / 気胸 / 嚢胞性肺疾患 / 遺伝子検査 / 肺嚢胞

Outline of Final Research Achievements

Pneumothorax , multiple lung cysts to opportunity was carried out to continue the FLCN gene diagnosis of Japanese BHDS was suspected Birt-Hogg-Dube syndrome (BHDS) patients , diagnostic number of cases has exceeded the 200 cases.
Many mutations in Japanese exon 11 of c.1285dupC, of exon 12 c.1347_1353dupCCACCCT, was c.1533_1536delGATG of exon 13.Japan's first mutation, genomic deletion cases were also confirmed multiple cases.
A comparison of lung fibroblasts BHDS patients and controls, but proliferation ability was no difference, migratory ability of BHDS fibroblasts was decreased. FLCN gene expression level was not different, FLCN protein level of BHDS fibroblasts was decreased.

Free Research Field

分子生物学