Establishment of innovative method of diagnosis and prevention for functional diseases
| Project/Area Number |
15H05663
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Legal medicine
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| Research Institution | Hyogo Medical University (2017-2018)
Nagasaki University (2015-2016) |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥24,050,000 (Direct Cost: ¥18,500,000、Indirect Cost: ¥5,550,000)
Fiscal Year 2018: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2016: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2015: ¥8,450,000 (Direct Cost: ¥6,500,000、Indirect Cost: ¥1,950,000)
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| Keywords | 機能性疾患 / 乳幼児突然死 / 法医学 / 次世代シーケンサー / RNAseq / 遺伝子変異 / 筋ジストロフィー / ミオパチー / Metabolic autopsy / 不整脈 / スクリーニング / 避けられる死 / metabolic autopsy / 次世代シークエンサー / 機能的疾患 |
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| Outline of Final Research Achievements |
Clinical exome sequencing revealed that six cases had arrhythmia-related gene variants and five cases had metabolic disease-related gene variants among 71 cases of sudden infant death. After these 11 cases were excluded, the remaining cases were defined as molecular autopsy-negative SUD and there were no significant differences in the frequency of arrhythmia-causing variants.
The case of a familial myopathy patient was analyzed. The patient had genetic variant which affected RNA splicing, and abnormal alternative splicing was detected in both cardiac and skeletal muscles. These affected isoforms might have caused the cardiac involvement with myopathy. Analyzing alternative splicing in sudden cardiac death was recommended.
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| Academic Significance and Societal Importance of the Research Achievements |
人が突然亡くなることは避けるべき問題であるにも関わらず、その原因は未だ完全に究明されているわけではない。これを解明することは本人・家族のみならず社会的にも大変有意義なことである。乳幼児や若年性の突然死の多くは遺伝子変異が原因であると考えられてきたが、徹底的に究明されるケースはそれほど多くなく今だ闇のままである。今回、clinical exome sequencing・RNAsequencingの技術を駆使し、究明にチャレンジした。結果的に、一定数の突然死症例がこれらの技術により診断できる可能性が考えられた。今後は、より簡便なより画一化した診断が広まっていくことが期待される。
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Report
(5 results)
Research Products
(12 results)
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[Journal Article] Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death2017
Author(s)
Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K
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Journal Title
J Hum Genet
Volume: 62
Pages: 989-995
Related Report
Peer Reviewed
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[Presentation] 法医学的検索2016
Author(s)
山本琢磨、梅原敬弘、大島友希、村瀬壮彦、池松和哉
Organizer
第12回日本先天代謝異常学会セミナー
Place of Presentation
東京都品川区東京コンファレンスセンター
Year and Date
2016-07-16
Related Report
Invited
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