Effective diagnosis and establishment of the therapy for catecholaminergic polymorphic ventricular tachycardia
Project/Area Number |
15K09689
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | National Cardiovascular Center Research Institute (2017) Shiga University of Medical Science (2015-2016) |
Principal Investigator |
Ohno Seiko 国立研究開発法人国立循環器病研究センター, 研究所, 部長 (20610025)
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Co-Investigator(Kenkyū-buntansha) |
堀江 稔 滋賀医科大学, 医学部, 教授 (90183938)
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Project Period (FY) |
2015-04-01 – 2018-03-31
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Project Status |
Completed (Fiscal Year 2017)
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Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
Keywords | 家族性突然死症候群 / カテコラミン誘発性多形性心室頻拍 / 不整脈 / カテコラミン誘発性多形成心室頻拍 / RYR2 / 遺伝子変異 / 心臓リアノジンチャネル / カテコラミン誘発性多型性心室頻拍 / リアノジンレセプターチャネル / QT延長症候群 |
Outline of Final Research Achievements |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease causing sudden cardiac death due to polymorphic ventricular tachycardia leading to VF in young patients. The major cause of CPVT is mutations in RYR2 with 105 exons, therefore the genetic analysis of CPVT has been difficult. However, we employed target gene sequencing and next generation sequencing system, and now, we can identify genetic mutations effectively. Long QT syndrome (LQTS) is an inherited disease similar to CPVT, especially, CPVT is sometimes misdiagnosed as LQT type 1 (LQT1). We compared the results of exercise stress test in patient with LQT1 or CPVT and found that the QT shortenings were prominent in CPVT patients. We construct a system for differentiation between CPVT and LQT1.
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Report
(4 results)
Research Products
(35 results)
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[Journal Article] Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.2017
Author(s)
Nishiuchi S, Makiyama T, Aiba T, Nakajima K, Hirose S, Kohjitani H, Yamamoto Y, Harita T, Hayano M, Wuriyanghai Y, Chen J, Sasaki K, Yagihara N, Ishikawa T, Onoue K, Murakoshi N, Watanabe I, Ohkubo K, Watanabe H, Ohno S, Doi T, Shizuta S, Minamino T, et.al
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Journal Title
Circ Cardiovasc Genet.
Volume: 6
Issue: 6
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.2017
Author(s)
Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.
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Journal Title
J Am Coll Cardiol.
Volume: 70
Issue: 3
Pages: 358-370
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] The genetics underlying acquired long QT syndrome: impact for genetic screening.2016
Author(s)
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M.
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Journal Title
European Heart Journal
Volume: 37 (18)
Issue: 18
Pages: 1456-1464
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Patient-Specific Human Induced Pluripotent Stem Cell Model Assessed with Electrical Pacing Validates S107 as a Potential Therapeutic Agent for Catecholaminergic Polymorphic Ventricular Tachycardia2016
Author(s)
Sasaki K, Makiyama T, Yoshida Y, Wuriyanghai Y, Kamakura T, Nishiuchi S, Hayano M, Harita T, Yamamoto Y, Kohjitani H, Hirose S, Chen J, Kawamura M, Ohno S, Itoh H, Takeuchi A, Matsuoka S, Miura M, Sumitomo N, Horie M, Yamanaka S, Kimura T
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Journal Title
PLoS One
Volume: 11
Issue: 10
Pages: e0164795-e0164795
DOI
NAID
Related Report
Peer Reviewed / Open Access
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