Genetic exploration in the cause of developing rare lung diseases using whole exome sequence analyses
| Project/Area Number |
16K09557
|
|---|
| 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 | Tokyo Medical and Dental University (2018)
Tokyo Medical University (2016-2017) |
|---|
Principal Investigator |
SETOGUCHI Yasuhiro 東京医科歯科大学, 大学院医歯学総合研究科, 特任教授 (90206649)
|
|---|
| Research Collaborator |
NAKAJIMA Toshihiro
|
|---|
| Project Period (FY) |
2016-04-01 – 2019-03-31
|
| Project Status |
Completed (Fiscal Year 2018)
|
| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2018: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
|
|---|
| Keywords | 特発性間質性肺炎 / PPFE / ゲノム / エクソーム解析 / 遺伝子 / サーファクタント / テロメア / 細胞接着因子 / 家族性間質性肺炎 / 希少肺疾患 / 特発性肺線維症 / exsome / テロメア関連遺伝子 / エクソーム / 遺伝性間質性肺炎 / 遺伝子変異 |
|---|
| Outline of Final Research Achievements |
Pleuroparenchymal fibroelastosis (PPFE) is a rare pulmonary fibrosis that is clinically characterized by upper lobe predominant fibrosis. The etiology remains unknown as well as other idiopathic interstitial pneumonias. To explore causative genes in developing PPFE as well as familial interstitial pneumonia (FIP), whole exome analyses or DNA sequence analyses with sanger method were performed in genome from 9 cases with adult-onset PPFE and 47 cases with adult-onset FIP. Deleterious variant in telomere-associated genes or cell adhesion factor associated genes were identified in all PPFE cases. Of FIP without PPFE, 57% was found to carry deleterious variants in surfactant-associated genes.
|
| Academic Significance and Societal Importance of the Research Achievements |
稀少間質性肺炎PPFEを除く家族性間質性肺炎のほとんどは、サーファクタント関連遺伝子変異が、またPPFEにおいては、テロメア関連遺伝子変異或いはその遺伝子の転写後制御に関わるRNA変異が病態形成に関わっている可能性を明らかにした。これまで有効な治療もなく予後不良な間質性肺炎の一部であるが成因に関わる遺伝子を特定したことは、今後の治療方開発や予防への大きな糸口となることが期待される。
|
Report
(4 results)
Research Products
(14 results)
