Molecular background of circadian rhythm of development of ventricuar arrhythmia in patients with Brugada syndrome
Project/Area Number |
17K09524
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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 |
Cardiovascular medicine
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Research Institution | International University of Health and Welfare (2018-2021) Keio University (2017) |
Principal Investigator |
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Project Period (FY) |
2017-04-01 – 2022-03-31
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Project Status |
Completed (Fiscal Year 2021)
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Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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Keywords | ブルガダ症候群 / 突然死 / 遺伝子解析 / 日内変動 / 臨床心臓学 |
Outline of Final Research Achievements |
Brugada syndrome arrhythmias are known to occur during nighttime sleep, but the details of the arrhythmic arrhythmia mechanism are unclear. The purpose of this study was to comprehensively analyze the genomes of patients with Brugada syndrome with a next-generation sequencer, and to clarify the molecular biological background of circadian rhythms. So far, 145 gene samples of Brugada syndrome patients have been collected. Panel or exsome analysis revealed rare variants in 12 SCN5A cases, 2 SCN3B cases, 1 SCN10A case, 1 GPD1L case, and 6 desmosome-related genes. The mutation identification rate was 15%.
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Academic Significance and Societal Importance of the Research Achievements |
若年性心臓突然死を来す循環器疾患のうち、代表的なブルガダ症候群において、申請者は臨床的に問題となる電気的ストームは日内・週内・季節変動することを初めて一連の患者で報告した。ブルガダ症候群の不整脈は夜間睡眠中に起きることが知られているが、不整脈の概日リズムのメカニズムの詳細は未解明である。ブルガダ症候群患者のゲノムを次世代シークエンサーで網羅的に解析し、ひいては概日リズムの分子生物学的背景を解 明することを目的として研究を行い、背景にある遺伝子異常を一部の症例で明らかにした。
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Report
(6 results)
Research Products
(43 results)
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[Journal Article] Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.2021
Author(s)
Zhang ZH, Barajas-Martinez H, Xia H, Li B, Capra JA, Clatot J, Chen GX, Chen X, Yang B, Jiang H, Tse G, Aizawa Y, Gollob MH, Scheinman M, Antzelevitch C, Hu D.
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Journal Title
J Am Coll Cardiol.
Volume: 78(16)
Issue: 16
Pages: 1603-1617
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.2021
Author(s)
Ishikawa T, Kimoto H, Mishima H, Yamagata K, Ogata S, Aizawa Y, Hayashi K, Morita H, Nakajima T, Nakano Y, Nagase S, Murakoshi N, Kowase S, Ohkubo K, Aiba T, Morimoto S, Ohno S, Kamakura S, Nogami A, Takagi M, Karakachoff M, Dina C, Schott JJ, Yoshiura KI, Horie M, Shimizu W, Nishimura K, Kusano K, Makita N.
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Journal Title
Eur Heart J.
Volume: 42(29)
Issue: 29
Pages: 2854-2863
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome.2020
Author(s)
Fujisawa T, Aizawa Y, Katsumata Y, Kimura K, Hashimoto K, Yamashita T, Miyama H, Kimura T, Kosaki K, Takatsuki S, Shimizu W, Fukuda K.
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Journal Title
J Arrhythm.
Volume: 36
Issue: 1
Pages: 193-196
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] The Durability of Atrial Fibrillation Ablation Using an Oesophageal Temperature Cut-Off of 38°C.2019
Author(s)
Kimura T, Nishiyama N, Negishi M, Nishiyama A, Takazawa T, Fujisawa T, Nakajima K, Kashimura S, Kunitomi A, Katsumata Y, Nishiyama T, Aizawa Y, Fukuda K, Takatsuki S.
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Journal Title
Heart Lung Circ.
Volume: 28
Issue: 7
Pages: 1050-1058
DOI
Related Report
Peer Reviewed
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[Journal Article] Assessment of Sex Differences in the Initial Symptom Burden, Applied Treatment Strategy, and Quality of Life in Japanese Patients With Atrial Fibrillation.2019
Author(s)
Ikemura N, Kohsaka S, Kimura T, Ueda I, Katsumata Y, Nishiyama T, Aizawa Y, Tanimoto K, Momiyama Y, Akaishi M, Mitamura H, Fukuda K, Spertus JA, Takatsuki S.
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Journal Title
JAMA Netw Open.
Volume: 2
Issue: 3
Pages: e191145-e191145
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia.2019
Author(s)
Fujisawa T, Aizawa Y, Katsumata Y, Udo A, Ito S, Hatakeyama K, Hirose M, Miyama H, Nakajima K, Nishiyama T, Kimura T, Nitta M, Misumi K, Takatsuki S, Kosaki K, Fukuda K.
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Journal Title
Case Rep Genet.
Volume: Jan 8
Pages: 9056596-9056596
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Incidence, Clinical Characteristics, and Long-term Outcome of the Dilated Phase of Hypertrophic Cardiomyopathy2018
Author(s)
Aizawa Y, Tanimoto Y, Hirata Y, Fujisawa T, Fukuoka R, Nakajima K, Katsumata Y, Nishiyama T, Kimura T, Yuasa S, Kohno T, Kohsaka S, Murata M, Maekawa Y, Furukawa Y, Takatsuki S, Fukuda K.
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Journal Title
The Keio Journal of Medicine
Volume: 68
Issue: 4
Pages: 87-94
DOI
NAID
ISSN
0022-9717, 1880-1293
Related Report
Peer Reviewed / Open Access
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[Journal Article] Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome.2018
Author(s)
Aizawa Y, Fujisawa T, Katsumata Y, Kohsaka S, Kunitomi A, Ohno S, Sonoda K, Hayashi H, Hojo R, Fukamizu S, Nagase S, Ito S, Nakajima K, Nishiyama T, Kimura T, Kurita Y, Furukawa Y, Takatsuki S, Ogawa S, Nakazato Y, Sumiyoshi M, Kosaki K, Horie M, Fukuda K.
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Journal Title
J Am Heart Assoc.
Volume: 7(18)
Issue: 18
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] A tale of two sisters with hypertrophic cardiomyopathy and recurrent embolism: When is the optimal timing of the intervention for left atrial appendage?2018
Author(s)
Kimura M, Kohno T, Makino S, Okuda S, Nawata K, Yanagisawa R, Kojima H, Nishiyama T, Aizawa Y, Yuasa S, Murata M, Maekawa Y, Okamoto K, Shimizu H, Fukuda K.
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Journal Title
Int J Cardiol.
Volume: 270
Pages: 187-187
DOI
Related Report
Peer Reviewed / Open Access
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[Presentation] Unmasking Brugada syndrome behind complete right bundle branch block by ventricular pacing.2017
Author(s)
52.Yoshiyasu Aizawa, Seiji Takatsuki, Takashi Komatsu, Kazuaki Nakajima, Shogo Ito, Shin Kashimura, Akira Kunitomi, Yoshinori Katsumata, Takahiko Nishiyama, Takehiro Kimura, Nobuhiro Nishiyama, Kotaro Fukumoto, Yoko Tanimoto, Yoshifusa Aizawa, Keiichi Fukuda.
Organizer
第63回日本不整脈心電学会学術大会
Related Report
Int'l Joint Research
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[Presentation] Sex Dependent Risk of Sudden Death or Sick Sinus Syndrome in a Family with Brugada Syndrome.2017
Author(s)
Yoshiyasu Aizawa, Taishi Fujisawa, Yoshinori Katsumata, Seiko Ohno, Keiko Sonoda, Hidemori Hayashi, Rintaro Hojo, Seiji Fukamizu, Takehiro Kimura, Nobuhiro Nishiyama, Yasuo Kurita, Seiji Takatsuki, Satoshi Ogwa, Kenjiro Kosaki, Yuji Nakazato, Minoru Horie, Keiichi Fukuda.
Organizer
APHRS2017/JHRS2017
Related Report
Int'l Joint Research
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