Development of a method to investigate cause of death related to fatty acid oxidation disorder.
| Project/Area Number |
18K10118
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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 | Gunma University |
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Principal Investigator |
KUBO RIEKO 群馬大学, 医学部, 技術職員 (40747127)
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| Co-Investigator(Kenkyū-buntansha) |
小湊 慶彦 群馬大学, 大学院医学系研究科, 教授 (30205512)
大嶋 紀安 群馬大学, 大学院医学系研究科, 助教 (30360514)
佐野 利恵 群馬大学, 大学院医学系研究科, 准教授 (70455955)
早川 輝 群馬大学, 大学院医学系研究科, 助教 (90758575)
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2022: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2021: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2020: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2019: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2018: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Keywords | 脂肪酸代謝異常 / 突然死 / 高度脂肪肝 / 遺伝子解析 / 質量分析 |
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| Outline of Final Research Achievements |
A significant proportion of sudden and unexpected infant deaths have been reported to be associated with fatty acid oxidation (FAO) deficiency. We have previously reported three cases of congenital FAO deficiency with severe liver steatosis.
Based on this experience, we analyzed fatty acids accumulated in the liver using LC-MS/MS in cases of sudden death with or without severe fatty liver. In addition, genetic analysis of genes encoding enzymes involved in fatty acid metabolism was performed using exome analysis in several cases in which postmortem imaging and histopathological examination revealed severe fatty livers. As a result, several genetic mutations were found in fatty acid metabolism-related genes.
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| Academic Significance and Societal Importance of the Research Achievements |
高度脂肪肝を伴う突然死症例において解剖検査、死後画像検査や病理組織学検査、LC-MS/MS用いた脂肪酸解析、さらには脂肪酸代謝関連酵素の遺伝子解析を行った。その結果により責任遺伝子を調べ、脂肪酸代謝遺伝子の新規変異を見出した。このように短時間で集落的な検査を行うことによりターゲットが絞られ、早急な死因究明が可能になると思われる。
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Report
(6 results)
Research Products
(45 results)
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[Journal Article] GDE5 inhibition accumulates intracellular glycerophosphocholine and suppresses adipogenesis at a mitotic clonal expansion stage.2019
Author(s)
Okazaki Y, Nakamura K, Takeda S, Yoshizawa I, Yoshida F, Ohshima N, Izumi T, Klein JD, Kumrungsee T, Sands JM, Yanaka N.
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Journal Title
Am J Physiol Cell Physiol.
Volume: 316
Related Report
Peer Reviewed
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[Journal Article] Tattoo image composed of radiopaque deposits demonstrated by postmortem computed tomography.2018
Author(s)
Hayakawa A, Sano R, Takei H, Takahashi Y, Kubo R, Tokue H, Hirasawa S, Shimada T, Awata S, Yuasa M, Uetake S, Akuzawa H, Kominato Y
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Journal Title
Leg Med.
Volume: 35
Pages: 9-11
DOI
Related Report
Peer Reviewed
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[Journal Article] Postmortem computed tomography evaluation of fatal gas embolism due to connection of an intravenous cannula to an oxygen supply.2017
Author(s)
Takahashi Y, Sano R, Yasuda A, Kuboya E, Takahashi K, Kubo R, Kominato Y, Takei H, Kobayashi S, Shimada T, Awata S, Tokue H, Hirasawa S
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Journal Title
Leg Med
Volume: 27
Pages: 1-4
DOI
Related Report
Peer Reviewed
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[Presentation] ELUCIDATION OF THE UNDERLYING MECHANISM RESPONSIBLE FOR BLOOD GROUP ABO ANTIGEN REDUCTION ON ERYTHROCYTES IN PATIENTS WITH MYELODYSPLASTIC SYNDROME2022
Author(s)
Hayakawa A, Sano R, Takahashi Y, Okawa T, Kubo R, Harada M, Fukuda H, Yokohama A, Handa H, Kawabata-Iwakawa E, Tsuneyama H, Tsukada J, Kominato Y.
Organizer
37th International Congress of the ISBT
Related Report
Int'l Joint Research
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