Development of a method to investigate cause of death related to fatty acid oxidation disorder
| Project/Area Number |
15K08866
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Legal medicine
|
|---|
| Research Institution | Gunma University |
|---|
Principal Investigator |
Kubo Rieko 群馬大学, 医学部, 技術職員 (40747127)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
小湊 慶彦 群馬大学, 大学院医学系研究科, 教授 (30205512)
佐野 利恵 群馬大学, 大学院医学系研究科, 准教授 (70455955)
高橋 遥一郎 群馬大学, 大学院医学系研究科, 助教 (50640538)
|
|---|
| Project Period (FY) |
2015-04-01 – 2018-03-31
|
| Project Status |
Completed (Fiscal Year 2017)
|
| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
|
|---|
| Keywords | 脂肪酸代謝異常 / 突然死 / 高度脂肪肝 |
|---|
| Outline of Final Research Achievements |
We had previously reported a case of congenital FAO deficiency with severe liver steatosis. We analyzed the three main genes associated with FAO deficiency in Japanese, and this revealed the thermolabile variant of CPT2. The enzyme exerts moderate catalytic activity at normal body temperature, whereas the activity is severely impaired during high fever. We investigated a case of sudden unexpected death involving a male homozygotic twin infant.Only the deceased had been treated with an antibiotic containing pivalic acid, which may sometimes cause hypocarnitinemia. Postmortem computed tomography and autopsy demonstrated severe liver steatosis, and subsequent genetic analysis revealed that the twin had the thermolabile variant of carnitine palmitoyl transferase 2 (CPT2). We concluded that the cause of death had been fatty acid oxidation deficiency accelerated by an antibiotic containing pivalic acid and virus infection in this infant harboring the thermolabile genetic variant of CPT2.
|
Report
(4 results)
Research Products
(36 results)
-
-
-
[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.
-
Journal Title
Leg Med.
Volume: 27
Pages: 1-4
Related Report
Peer Reviewed
-
-
-
[Journal Article] Use of postmortem computed tomography angiography to detect vascular injuries accompanying skull base fracture2016
Author(s)
Kuninaka H, Takahashi Y, Sano R, Takahashi K, Kubo R, Kominato Y, Takei H, Kobayashi S, Shimada T, Tokue H, Awata S, Hirasawa S
-
Journal Title
Legal Medicine
Volume: 23
Pages: 55-58
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
[Journal Article] A 3.0-kb delation including an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene in an individual with the Bm phenotype2015
Author(s)
Sano R, Kuboya E, Nakajima T, Takahashi Y, Takahashi K, Kubo R, Kominato Y, Takeshita H, Yamao H, Kishida T, Isa K, Ogasawara K, Uchikawa M
-
Journal Title
Vox Sang
Volume: 108
Issue: 3
Pages: 310-313
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
-
[Journal Article] Blood group B gene is barely expressed in in vitro erythroid culture of Bm-derived CD34+ cells without an erythroid cell-specific regulatory element.2015
Author(s)
Sano R, Nogawa M, Nakajima T, Takahashi Y, Takahashi K, Kubo R, Kominato Y, Yokohama A, Tsukada J, Yamao H, Kishida T, Ogasawara K, Uchikawa M.
-
Journal Title
Vox Sang.
Volume: 108
Pages: 302-309
Related Report
Peer Reviewed / Acknowledgement Compliant
-
-
-
-
-
-
-
-
-
[Presentation] ABO 遺伝子のプロモーター領域の一塩基置換によって生じたB3型の一例2016
Author(s)
伊藤正一, 荻山佳子, 鈴木光, 峯岸正好, 清水博, 伊佐和美, 小笠原健一, 内川誠, 高橋遥一郎, 佐野利恵, 中島たみ子, 小湊慶彦
Organizer
第64回日本輸血・細胞治療学会総会
Place of Presentation
京都 国立京都国際会館
Year and Date
2016-04-29
Related Report
-
-
-
-
-
-
-
-
-
