| Project/Area Number |
25670470
|
|---|
| Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Tohoku University |
|---|
Principal Investigator |
KURE Shigeo 東北大学, 医学(系)研究科(研究院), 教授 (10205221)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
TOMINAGA Teiji 東北大学, 大学院医学系研究科, 教授 (00217548)
|
|---|
| Project Period (FY) |
2013-04-01 – 2015-03-31
|
| Project Status |
Completed (Fiscal Year 2014)
|
| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
|---|
| Keywords | 内科系臨床医学 / 小児神経学 / 遺伝子診断 / MRアンギオグラフィー / もやもや病 / 遺伝子変異 / 遺伝子検査 / モヤモヤ病 / RNF213遺伝子多型 |
|---|
| Outline of Final Research Achievements |
Moyamoya disease is characterized by progressive bilateral internal carotid artery stenosis/occlusion and development of abnormal collateral vessels. A genome-wide association study was performed, which resulted in a strong association of RNF213 gene region with risk for Moyamoya disease. Mutational analysis identified a founder mutation c.14576G>A in 73% cases with Moyamoya disease and 1.4% of control individuals, suggesting that the mutation carriers have increased risk for Moyamoya disease, odds ratio, 190.9 (P=1.2x10-43). We developed a genetic testing for this founder mutation by combination of immunochromatography and allele specific oligonucleotide hybridization. We performed this genetic test and MRI angiography in Moyamoya disease patients and their families for development of presymptomatic diagnosis of Moyamoya disease.
|
