2009 Fiscal Year Final Research Report
Genotype-phenotype relation study on inherited cardiac arrhythmias as ion hcannel diseases
| Project/Area Number |
19390212
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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 Shiga University of Medical Science, 医学部, 教授 (90183938)
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| Co-Investigator(Kenkyū-buntansha) |
ITOH Hideki 滋賀医科大学, 医学部, 助教 (30402738)
TSUJI Keiko 滋賀医科大学, 医学部, 特任助教 (70432309)
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| Project Period (FY) |
2007 – 2009
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| Keywords | 生理学 / 遺伝子 / 蛋白質 / イオンチャネル |
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| Research Abstract |
A part of inherited arrhythmias is now known to result from a variety of genetic variants in genes encoding cardiac ion channels and their modulating proteins. There are at least two different types of genetic variants: mutations and single nucleotide polymorphism (SNP). Among the inherited arrhythmia, congenital long QT syndrome (LQTS) is a disorder defined by prolongation of the QT interval. Patients with LQTS are predisposed to fatal ventricular tachycardia - torsade de pointes (TdP) - leading to recurrent syncope or sudden cardiac death. Syncope or sudden death could be the first and the only manifestation. LQTS affects an estimated 1 in 2,000 people.
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[Presentation] Latent genetic backgrounds and molecular pathogenesis of drug-induced long QT syndrome2009
Author(s)
Itoh H, Watanabe E, Watanabe I, Sakaguchi T, Makiyama T, Akao M, Oono S, Zenda N, Higashi Y, Mori C, Okajima K, Matsuura H, Horie M
Organizer
第73回日本循環器学会総会・学術集会
Place of Presentation
大阪
Year and Date
20090320-20090322
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[Presentation] Severer phenotypes of long QT syndrome are associated with compound mutations: A multicenter study2009
Author(s)
Itoh H, Shimizu W, Yamagata K, Sakaguchi T, Oono S, Makiyama T, Akao M, Noda T, Miyamoto Y, Kamakura S, Horie M
Organizer
第73回日本循環器学会総会・学術集会
Place of Presentation
大阪
Year and Date
20090320-20090322
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[Presentation] Clinical Features in a Common Mutation and Underlying Biophysical Mechanisms2007
Author(s)
Makita N, Behr E, Shimizu W, Horie M, Crotti L, Itoh H, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL Jr, Roden DM.Overlap Between LQT3, Brugada Syndrome:
Organizer
The American Heart Association Scientific Sessions 2007
Place of Presentation
U.S. A
Year and Date
2007-11-05
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