2013 Fiscal Year Final Research Report
Multidisciplinary Studies on Molecular Pathogenesis of Inherited Primary Arrhythmia Syndromes
| Project/Area Number |
23390209
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Circulatory organs internal medicine
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
HORIE Minoru 滋賀医科大学, 医学部, 教授 (90183938)
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| 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)
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| Co-Investigator(Renkei-kenkyūsha) |
WU Jie 西安交通大学, 大学院・医学研究科, 准教授 (40595097)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Keywords | 分子心臓病態学 |
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| 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.
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Research Products
(8 results)
