| Project/Area Number |
20590598
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Hygiene
|
|---|
| Research Institution | Kyoto University |
|---|
Principal Investigator |
HITOMI Toshiaki Kyoto University, 大学院・医学研究科, 講師 (90405275)
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
KOIZUMI Akio 京都大学, 大学院・医学研究科, 教授 (50124574)
MINATA Mutsuko 京都大学, 大学院・医学研究科, 助教 (00456857)
INOUE Jyunko 京都大学, 大学院・医学研究科, 研究員 (20378657)
KOBAYASHI Hatasu 京都大学, 大学院・医学研究科, 研究員 (70542091)
|
|---|
| Project Period (FY) |
2008 – 2010
|
| Project Status |
Completed (Fiscal Year 2010)
|
| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
|
|---|
| Keywords | 予防医学 / Moyamoya病 / 遺伝子 / 17番染色体 / 脳血管疾患 / SNP / 東アジア / ヨーロッパ / ヨーロツパ |
|---|
| Research Abstract |
We have identified a susceptibility locus at 17q25.3 using genome-wide linkage analysis with Japanese autosomal dominant pedigrees. A novel rare variant, ss161110142, which was located within the promoter of the Raptor gene, was common to familial moyamoya disease. minor allele of ss161110142 was much more frequent in case than in controls among East Asian. However, this allele was not detected in the Caucasian case and control. Having carried out positional cloning for this region, we identified mysterin as a susceptible gene for moyamoya disease. This gene encodes a 591kDa protein and functions unknown. Mysterin knock-down zebra fish showed the unique anomaly of angiogenesis. Aberrant function of mysterin may underlie the characteristic vascular phenotype observed in moyamoya disease.
|
