Molecular Genetic analysis and Tumorigenesis of Birt-Hogg-Dube syndrome in Japan
Project/Area Number |
15K10600
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Urology
|
Research Institution | Yokohama City University |
Principal Investigator |
YAO Masahiro 横浜市立大学, 医学研究科, 教授 (00260787)
|
Co-Investigator(Kenkyū-buntansha) |
中井川 昇 横浜市立大学, 医学部, 准教授 (00237207)
古屋 充子 横浜市立大学, 医学部, 准教授 (10361445)
蓮見 壽史 横浜市立大学, 附属病院, 助教 (40749876)
|
Project Period (FY) |
2015-04-01 – 2018-03-31
|
Project Status |
Completed (Fiscal Year 2017)
|
Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
Keywords | バート・ホッグ・デュベ 症候群 / 遺伝性腎腫瘍 / FLCN遺伝子 / BHD症候群 / 遺伝性腫瘍症候群 / 腎がん |
Outline of Final Research Achievements |
We analyzed germline mutation and clinicopathologic characteristics of 312 patients from 120 Birt-Hogg-Dube syndrome (BHD) families. A total of 31 different FLCN sequence variants, including 3 hotspots, were identified. Almost all patients presented with pulmonary cysts, however, cutaneous manifestations were relatively weak. The incidence of RCCs in over the age of 40 was 34.8%. We conducted whole-exome sequencing analysis as well as metabolite analysis in BHD associated kidney cancers. Copy number variations (CNV) are considerably different from those in sporadic cases. Very few somatic variants were commonly observed, however, variants in chromatin remodeling genes were frequently observed. Metabolite analysis revealed metabolic reprogramming towards upregulated redox regulation which may neutralize reactive oxygen species potentially produced from mitochondria with increased respiratory capacity under FLCN-deficiency.
|
Report
(4 results)
Research Products
(28 results)
-
-
-
-
-
-
[Journal Article] H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.2017
Author(s)
Hasumi H, Hasumi Y, Baba M, Nishi H, Furuya M, Vocke CD, Lang M, Irie N, Esumi C, Merino MJ, Kawahara T, Isono Y, Makiyama K, Warner AC, Haines DC, Wei MH, Zbar B, Hagenau H, Feigenbaum L, Kondo K, Nakaigawa N, Yao M, Metwalli AR, Marston Linehan W, Schmidt LS
-
Journal Title
Human Molecular Genetics
Volume: 26
Pages: 354-366
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
-
[Journal Article] Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dube syndrome.2017
Author(s)
Furuya M, Hasumi H, Baba M, Tanaka R, Iribe Y, Onishi T, Nagashima Y, Nakatani Y, Isono Y, Yao M.
-
Journal Title
Lab Invest
Volume: 97
Pages: 343-351
Related Report
Peer Reviewed / Acknowledgement Compliant
-
[Journal Article] Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dube syndrome.2016
Author(s)
Furuya M, Yao M, Tanaka R, Nagashima Y, Kuroda N, Hasumi H, Baba M, Matsushima J, Nomura F, Nakatani Y
-
Journal Title
Clinical Genetics
Volume: 90
Issue: 5
Pages: 403-412
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
-
-
-
-
-
-
-
-
-
[Presentation] BHD関連腎癌の発癌機構解析2017
Author(s)
蓮見 壽史, 古屋 充子, 辰野 健二, 馬場 理也, 横溝 由美子, 逢坂 公人, 林 成彦, 槙山 和秀, 近藤 慶一, 中井川 昇, 山本 尚吾, 油谷 浩幸, 矢尾 正祐
Organizer
第105回日本泌尿器科学会総会
Related Report
-
-
-
-
-
-
-
-
-
-