2010 Fiscal Year Final Research Report
Impact of SCN5A gene mutations in prognosis of left ventricular noncompaction
| Project/Area Number |
20591274
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | University of Toyama |
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Principal Investigator |
ICHIDA Fukiko University of Toyama, 医学薬学研究部, 准教授 (30223100)
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| Co-Investigator(Kenkyū-buntansha) |
HIRONO Keiichi 富山大学, 医学薬学研究部, 助教 (80456384)
UESE Keiichiro 富山大学, 医学薬学研究部, 助教 (10401803)
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| Project Period (FY) |
2008 – 2010
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| Keywords | 拡張型心筋症 / 心筋緻密化障害 / 不整脈 / SCN5A / 遺伝子解析 / 遺伝的多様性 / WPW症候群 / 突然死 |
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| Research Abstract |
This study was per formed to compare the frequency of SCN5A variants in LVNC patients with or without arrhythmias, and to investigate the relationship between variants and disease severity. DNA was isolated from the peripheral blood of 44 Japanese probands with LVNC, comprising familial cases and 23 sporadic cases. The frequency of SCN5A variants was significantly higher in the patients with arrhythmias than those without (50% vs 7% : P=0.0003), suggesting these variants represent a risk factor for arrhythmia and supporting the hypothesis that genes encoding ion channels are involved in LVNC pathophysiology.
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[Journal Article] Noncompaction study collaborators. Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.2010
Author(s)
Chang B, Momoi N, Shan L, Mitomo M, Aoyagi Y, Endo K, Takeda I, Chen R, Xing Y, Yu X, Watanabe S, Yoshida T, KaneganeH, Tsubata S, Bowles NE, Ichida F
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Journal Title
Mol Genet Metab. 100(2)
Pages: 198-203
Peer Reviewed
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