| Project/Area Number |
25670402
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Respiratory organ internal medicine
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| Research Institution | Juntendo University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| 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 / ウエスタンブロット法 / フォリクリン / 遺伝子変異 / 遺伝子発現 / タンパク定量 / 蛋白定量 |
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| 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.
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