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

• 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
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥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)
• 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

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.

Research Products

• [Journal Article] バート・ホッグ・デュベ症候群 (2015)
  • Author(s): 福岡みずき、江花 弘基、岩渕 千雅子、栗原 正利、瀬山 邦明
  • Journal Title: 日本臨床 Volume: 73 Pages: 64-69
• [Journal Article] 診断メモ BHD症候群 (2015)
  • Author(s): 柳下薫寛、瀬山邦明
  • Journal Title: 内科 Volume: 115 Pages: 931-931
• [Journal Article] Characterization of pulmonary cysts in Birt-Hogg-Dube syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients (2014)
  • Author(s): Kumasaka T, Hayashi T, Mitani K, Kataoka H, Kikkawa M, Tobino K, Kobayashi E, Gunji Y, Kunogi M, Kurihara M, Seyama K.
  • Journal Title: Histopathology Volume: published online: 4 MAR 2014 Issue: 1 Pages: 1-11
  • DOI: 10.1111/his.12368
  • Peer Reviewed / Open Access
• [Presentation] Birt-Hogg-Dube症候群に対する胸膜カバーリング術の範囲と気胸再発率に関する検討 (2015)
  • Author(s): 溝渕 輝明, 江花 弘基, 肥塚 智, 高橋 亮, 瀬山 邦明, 栗原 正利
  • Organizer: 日本気胸・嚢胞性肺疾患学会
  • Place of Presentation: 東京
  • Year and Date: 2015-09-04
• [Presentation] 肺病変でBirt-Hogg-Dube症候群が疑われた31例における皮膚病変と病理学的検討 (2015)
  • Author(s): 岩渕 千雅子, 根岸 亜津佐, 江花 弘基, 溝渕 輝明, 熊坂 利夫, 瀬山 邦明, 栗原 正利
  • Organizer: 日本気胸・嚢胞性肺疾患学会
  • Place of Presentation: 東京
  • Year and Date: 2015-09-04
• [Presentation] Birt-Hogg-Dube Syndromeを考慮すべき臨床指標の検討 (2015)
  • Author(s): 江花 弘基, 溝渕 輝明, 星加 義人, 小林 悦子, 熊坂 利夫, 安藤 克利, 芳賀 高浩, 福岡 みずき, 高橋 和久, 瀬山 邦明, 栗原 正利
  • Organizer: 日本気胸・嚢胞性肺疾患学会
  • Place of Presentation: 東京
  • Year and Date: 2015-09-04
• [Presentation] Birt-Hogg-Dube Syndromeによる気胸と原発性自然気胸の臨床的特徴の検討 (2015)
  • Author(s): 江花 弘基, 安藤 克利, 溝渕 輝明, 栗原 正利, 瀬山 邦明, 高橋 和久
  • Organizer: 日本呼吸器学会
  • Place of Presentation: 東京
  • Year and Date: 2015-04-17