Comprehensive genetic analysis of sudden unexplained death syndrome cases using a next-generation sequencing
| Project/Area Number |
15K08867
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Legal medicine
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| Research Institution | University of Toyama |
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Principal Investigator |
Hata Yukiko 富山大学, 大学院医学薬学研究部(医学), 准教授 (30311674)
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| Co-Investigator(Kenkyū-buntansha) |
森 寿 富山大学, 大学院医学薬学研究部(医学), 教授 (00239617)
木下 耕史 富山大学, 大学院医学薬学研究部(医学), 助教 (10585920)
西田 尚樹 富山大学, 大学院医学薬学研究部(医学), 教授 (10315088)
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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 |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
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| Keywords | Sudden unexplained death / Autopsy / Cardiomyopathy / Channelopathy / Next-generation sequence / Epilepsy / epilepsy |
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| Outline of Final Research Achievements |
The purpose of our study is to explore the cause and manner of sudden unexplained death syndrome (SUDS). Recent studies on the genetic analysis of SUDS cases have targeted the major channelopathy-associated genes.
We selected the SUDS cases in a series of autopsy cases of Japanese subjects and performed the pathological examination and gene analysis. As a result, we showed that hereditary heart diseases other than channelopathy may also be a significant cause of SUDS. In addition, a combined pathological and genetic evaluation may provide a reliable diagnosis of hereditary heart disease for SUD cases.
We believe that our studies will lead to not only the evaluation of the cause of death but the prevention of SUDS.
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Report
(4 results)
Research Products
(59 results)
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[Journal Article] SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel2016
Author(s)
Kinoshita K, Takahashi H, Hata Y, Nishide K, Kato M, Fujita H, Yoshida S, Murai K, Mizumaki K, Nishida K, Yamaguchi Y, Kano M, Tabata T, Nishida N
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Journal Title
Heart Rhythm
Volume: 13
Issue: 5
Pages: 1113-1120
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Anomalous origin of the right coronary artery evaluated with multidetector computed tomography and its clinical relevance.2016
Author(s)
Hirono K, Hata Y, Miyao N, Nakaoka H, Saito K, Ibuki K, Watanabe K, Ozawa S, Higuma T, Yoshimura N, Nishida N, Ichida F
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Journal Title
J Cardiol
Volume: 68
Issue: 3
Pages: 196-201
DOI
Related Report
Peer Reviewed
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[Presentation] Phenotype-Genotype correlations in the fetal patients with left ventricular noncompaction.2017
Author(s)
Hirono K, Hata Y, Ozawa S, Wang C, Toda T, Momoi N, Inuzuka R, Hiroki N, Sakaguchi H, Kurosaki K, Okabe M, Miyao N, Nakaoka H, Ibuki K, Saito K, Nishida N, Ichida F.
Organizer
The 13th Japan-China-Korea Pediatric Heart Forum with Asian Pacific Symposium
Related Report
Int'l Joint Research / Invited
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[Presentation] 家族歴による早期遺伝子診断と介入を行ないえたBarth症候群の乳児例2015
Author(s)
趙 麻未, 鮎沢 衛, 加藤雅崇, 渡邊拓史, 小森暁子, 阿部百合子, 神保詩乃, 神山 浩, 高橋昌里, 廣野恵一, 市田蕗子, 畑由紀子, 西田尚樹
Organizer
第51回日本小児循環器学会総会・学術集会
Place of Presentation
東京
Year and Date
2015-07-16
Related Report
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[Presentation] Electrophysiological characterization of a novel SCN5A mutant identified in a Brugada syndrome patient.2015
Author(s)
Takahashi H, Kinoshita K, Hata Y, Yoshida S, Fujita H, Murai K, Yamaguchi Y, Mizumaki K, Inoue H, Nishida N, Tabata T.
Organizer
第120回日本解剖学会総会･全国学術集会・第92回日本生理学会大会
Place of Presentation
神戸
Year and Date
2015-05-21
Related Report
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