Elucadation of genetic disorders and molecular pathogenesis in inherited bradyarrhythmia due to the abnormalities in genes encoding sarcomere components
Project/Area Number |
26860572
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Cardiovascular medicine
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Research Institution | Nagasaki University |
Principal Investigator |
ISHIKAWA Taisuke 長崎大学, 医歯薬学総合研究科(医学系), 助教 (60708692)
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Project Period (FY) |
2014-04-01 – 2016-03-31
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Project Status |
Completed (Fiscal Year 2015)
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Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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Keywords | 徐脈 / 不整脈 / 遺伝子 / 変異 / 遺伝子解析 / 心房 / 興奮伝導 / 次世代シークエンサー / 遺伝子異常 / ターゲットシークエンス / チャネル / サルコメア / 遺伝子変異 / 洞不全症候群 / 心房性不整脈 |
Outline of Final Research Achievements |
The etiology of familial suprabventricular bradyarrhythmia without basal heart disorders is partly due to genetic disorders. The aim of the study is to elucidate the responsible genes and mutations in the patients susceptible for genetic etiology. By using next generation sequencer to screen mutations for 200 genes that are preferentially expressed in the heart, we identified responsible genes and mutations in approximately 40% of cases (12 probands) with unknown etiology, including two novel responsible genes for sick sinus syndrome. In combination with the functional assay by using heterologous overexpression system, we determined 11 mutations in 6 genes as genetic disorders underlysing familial supraventricular bradyarrhythmia.
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Report
(3 results)
Research Products
(23 results)
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[Journal Article] Genetic defects in a His-Purkinje system transcription factor, IRX3, cause lethal cardiac arrhythmias.2016
Author(s)
Koizumi A, Sasano T, Kimura W, Miyamoto Y, Aiba T, Ishikawa T, Nogami A, Fukamizu S, Sakurada H, Takahashi Y, Nakamura H, Ishikura T, Koseki H, Arimura T, Kimura A, Hirao K, Isobe M, Shimizu W, Miura N, Furukawa T.
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Journal Title
European Heart Journal.
Volume: 37 (18)
Issue: 18
Pages: 1469-1475
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] A novel mutation in alpha-myosin heavy chain gene is associated with sick sinus syndrome2015
Author(s)
Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N
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Journal Title
Circ Arrhythm Electrophysiol
Volume: 8
Issue: 2
Pages: 400-108
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.2014
Author(s)
Abe K, Machida T, Sumitomo N, Yamamoto H, Ohkubo K, Watanabe I, Makiyama T, Fukae S, Kohno M, Harrell DT, Ishikawa T, Tsuji Y, Nogami A, Watabe T, Oginosawa Y, Abe H, Maemura K, Motomura H, Makita N.
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Journal Title
Circ Arrhythm Electrophysiol
Volume: in press
Issue: 3
Pages: 511-517
DOI
NAID
Related Report
Peer Reviewed
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[Presentation] Meta-analysis of Short QT Syndrome discloses genotype-dependent clinical characteristics in age of manifestation and arrhythmia complications.2015
Author(s)
Harrell, D. T. Ashihara, T. Ishikawa, T. Mazzanti, A. Takahashi, K. Oginosawa, Y. Abe, H. Maemura, K. Sumitomo, N. Uno, K. Takano, M. Priori, S. G. Makita, N.
Organizer
第30回日本不整脈学会学術大会・第32回日本心電学会学術集会
Place of Presentation
京都国際会議場(京都府・京都市)
Year and Date
2015-07-28
Related Report
Int'l Joint Research
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