| Project/Area Number |
15K08892
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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 | Fukuoka University |
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Principal Investigator |
MATSUSUE Aya 福岡大学, 医学部, 講師 (70309920)
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| Co-Investigator(Kenkyū-buntansha) |
原 健二 福岡大学, 医学部, 講師 (00090738)
ウォーターズ ブライアン 福岡大学, 医学部, 助教 (00609480)
久保 真一 福岡大学, 医学部, 教授 (10205122)
柏木 正之 福岡大学, 医学部, 准教授 (70301687)
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| Project Period (FY) |
2015-10-21 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 乳幼児突然死 / 遺伝性致死性不整脈 / 先天性脂肪酸代謝異常症 |
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| Outline of Final Research Achievements |
Some sudden unexpected infant deaths remain unexplained after a complete investigation, which includes an autopsy. There are many genetic and environmental risk factors that may contribute to sudden unexpected infant deaths. We analyzed genes associated with lethal arrhythmias and fatty acid oxidation disorder in autopsy cases of sudden unexpected infant deaths in which the cause of death was not identified. We examined mutations in the SCN5A (sodium channel, voltage-gated, type V, alpha subunit), ryanodine receptor 2 (RYR 2), carnitine palmitoyltransferase II (CPT II), and very long-chain acyl-CoA dehydrogenase (VLCAD) genes and identified novel mutations and polymorphisms in these genes. We compared the frequency of mutations and polymorphisms in the SCN5A gene between Japanese and German populations.
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