| Project/Area Number |
23390209
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Circulatory organs internal medicine
|
|---|
| Research Institution | Shiga University of Medical Science |
|---|
Principal Investigator |
HORIE Minoru 滋賀医科大学, 医学部, 教授 (90183938)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
ASHIHARA Takashi 滋賀医科大学, 医学部, 助教 (80396259)
ITOH Hideki 滋賀医科大学, 医学部, 助教 (30402738)
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
WU Jie 西安交通大学, 大学院・医学研究科, 准教授 (40595097)
|
|---|
| Project Period (FY) |
2011-04-01 – 2014-03-31
|
| Project Status |
Completed (Fiscal Year 2013)
|
| Budget Amount *help |
¥19,370,000 (Direct Cost: ¥14,900,000、Indirect Cost: ¥4,470,000)
Fiscal Year 2013: ¥6,110,000 (Direct Cost: ¥4,700,000、Indirect Cost: ¥1,410,000)
Fiscal Year 2012: ¥6,110,000 (Direct Cost: ¥4,700,000、Indirect Cost: ¥1,410,000)
Fiscal Year 2011: ¥7,150,000 (Direct Cost: ¥5,500,000、Indirect Cost: ¥1,650,000)
|
|---|
| Keywords | 分子心臓病態学 / 遺伝性不整脈 / パッチクランプ法 / コンピュータシミュレーション / 遺伝子解析 / 機能解析 / iPS細胞 / テーラーメイド医療 |
|---|
| Research Abstract |
Since 1996, we have collected both detailed clinical data and genome from patients with cardiovascular problems, especially with inherited primary arrhythmia syndromes (IPAS). We have registered ~3,500 cases (~1,700 families) and conducted genetic testing. As to probands with congenital long QT syndrome, more than half of them could be identified, as to those with Brugada syndrome, ~10% was identified to have SCN5A mutations. However, all the identified genetic variants were not necessarily pathogenic. Based on multidisciplinary approaches, including functional assay of mutant channels by patch-clamp method or computer simulation technique, we could evaluate the genotype-phenotype relation in regard to IPAS.
|
