| Project/Area Number |
24590852
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Legal medicine
|
|---|
| Research Institution | University of Toyama |
|---|
Principal Investigator |
HATA Yukiko 富山大学, 大学院医学薬学研究部(医学), 助教 (30311674)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
NISHIDA Naoki 富山大学, 大学院医学薬学研究部(医学), 教授 (10315088)
KINOSHITA Koshi 富山大学, 大学院医学薬学研究部(医学), 助教 (10585920)
MORI Hisashi 富山大学, 大学院医学薬学研究部(医学), 教授 (00239617)
|
|---|
| Project Period (FY) |
2012-04-01 – 2015-03-31
|
| Project Status |
Completed (Fiscal Year 2014)
|
| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2012: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
|
|---|
| Keywords | 心臓突然死 / チャネル異常症 / 心筋症 / 法医剖検例 / 致死性不整脈遺伝子 / 法医剖検 / イオンチャネル / 心臓性突然死 / イオンチャンネル / 遺伝子変異解析 / １塩基多型 |
|---|
| Outline of Final Research Achievements |
The adequate assessment of the causes of sudden cardiac death (SCD) is importance. An arrhythmia-related gene analysis may potentially provide a pathogenic basis for SCD and establish cause and manner of death.
In this molecular analysis for SCD cases, over one-third of subjects had arrhythmia-related gene variant. This suggests that arrhythmia mutations and/or susceptibility polymorphisms identified in the present study might represent risk factors for arrhythmias in subjects and involved in part of the pathogenesis of SCD. Furthermore, we identified a novel hERG frameshift mutation in a patient who died from SCD. The mutation decreased the number of functional channels presumably by impairing the post-transcriptional processing of the mutant product. This decrease may explain, at least in part, the cause of SCD.
Our findings provide deeper insight into the current understanding of the contribution of variants of the arrhythmia-related genes among subjects with SCD.
|
