| Project/Area Number |
18K10119
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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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| Review Section |
Basic Section 58040:Forensics medicine-related
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| Research Institution | University of Toyama |
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Principal Investigator |
Hata Yukiko 富山大学, 学術研究部医学系, 准教授 (30311674)
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| Co-Investigator(Kenkyū-buntansha) |
西田 尚樹 富山大学, 学術研究部医学系, 教授 (10315088)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | Sudden unexplained death / Autopsy / Infants and children / Exome sequence / 原因不明の突然死 / 乳幼児・小児 / エクソーム解析 / スプライシングアッセイ / てんかん / 次世代シーケンサー / 遺伝性心疾患 / 代謝疾患 |
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| Outline of Final Research Achievements |
We performed next-generation sequencing (NGS) analysis in 29 sudden infant death syndrome (SIDS) and sudden unexplained death in childhood (SUDC) cases (19 men and 10 women; age 1-13 years, under 1-year-old; 16 cases, over 1-year-old; 13 cases) to identify causal variants in disease-associated genes. Here, we forced simply on obvious pathogenic variants that could increase the power by only considering variants with strong effects on phenotypes.
Three known pathogenic variants and 7 unknown pathogenic variants in 9 genes were identified in 7 of the 29 cases. In four cases, heterozygous pathogenic variants in epileptic encephalopathy-related genes were detected. In one case, a pathogenic variant was detected in the cardiomyopathy-related gene. We identified molecular diagnoses in 5 of 29 cases (17.2%) involving 4 genes that have been implicated in sudden death.
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| Academic Significance and Societal Importance of the Research Achievements |
乳幼児，小児の突然死は生前無症候で，突然死が初発症状となる場合も少なくないため，患者本人の不幸だけではなく，家族にとっても悲劇的な事態となる。本研究により，乳幼児，小児の原因不明の突然死の遺伝的な背景を詳細に解析することで診断精度の向上が見込まれる。これを基にした乳幼児，小児の突然死予防の取り組みの遂行及び突然死の病態解明が進捗することが期待される。
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