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Development of a method to investigate cause of death related to fatty acid oxidation disorder

Research Project

Project/Area Number 15K08866
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Legal medicine
Research InstitutionGunma 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)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (36 results)

All 2018 2017 2016 2015

All Journal Article (19 results) (of which Peer Reviewed: 19 results,  Open Access: 3 results,  Acknowledgement Compliant: 11 results) Presentation (17 results) (of which Invited: 1 results)

  • [Journal Article] Usefulness of coronary postmortem computed tomography angiography to detect lesions in the coronary artery and myocardium in cases of sudden death.2018

    • Author(s)
      Takei H, Sano R, Takahashi Y, Takahashi K, Kominato Y, Tokue H, Shimada T, Awata S, Hirasawa S, Ohta N.
    • Journal Title

      Leg Med.

      Volume: 30 Pages: 46-51

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Sequence analysis of ABO and its homologues is valid for species identification.2017

    • Author(s)
      Sano R, Fukuda H, Takahashi Y, Takahashi K, Kubo R, Kobayashi M, Fujihara J, Takeshita H, Kominato Y.
    • Journal Title

      Transfus Med

      Volume: 27 Issue: 6 Pages: 428-436

    • DOI

      10.1111/tme.12455

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [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
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Histone deacetylase inhibitors suppress ABO transcription in vitro, leading to reduced expression of the antigens.2017

    • Author(s)
      Takahashi Y, Kubo R, Sano R, Nakajima T, Takahashi K, Kobayashi M, Handa H, Tsukada J, Kominato Y.
    • Journal Title

      Transfusion.

      Volume: 57 Pages: 554-562

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Epithelial expression of human ABO blood group gene is dependent upon a downstream regulatory element functioning through an epithelial cell-specific transcription factor, Elf5.2016

    • Author(s)
      Sano R, Nakajima T, Takahashi Y, Kubo R, Kobayashi M, Takahashi K, Takeshita H, Ogasawara K, Kominato Y.
    • Journal Title

      J Biol Chem

      Volume: 291 Issue: 43 Pages: 22594-22606

    • DOI

      10.1074/jbc.m116.730655

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [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

      10.1016/j.legalmed.2016.09.008

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] A case of sudden unexpected infant death involving a homozygotic twin with the thermolabile CPT2 variant, accompanied by rotavirus infection and treatment with an antibiotic containing pivalic acid2016

    • Author(s)
      Takahashi Y, Sano R, Kominato Y, Kubo R, Takahashi K, Nakajima T, Takeshita H, Ishige T
    • Journal Title

      Legal medicine

      Volume: 22 Pages: 13-17

    • DOI

      10.1016/j.legalmed.2016.07.005

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Fucosylated Glycans in α1-Acid Glycoprotein for Monitoring Treatment Outcomes and Prognosis of Cancer Patients.2016

    • Author(s)
      Yazawa S, Takahashi R, Sano R, et al.
    • Journal Title

      PLoS One.

      Volume: 11 Issue: 6 Pages: e0156277-e0156277

    • DOI

      10.1371/journal.pone.0156277

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A3 and B3.2016

    • Author(s)
      Isa K, Yamamuro Y, Ogasawara K, Yabe R, Ogiyama Y, Ito S, Takahashi Y, Y Kominato Y, Sano R, Uchikawa M.
    • Journal Title

      Vox Sang.

      Volume: 110 Issue: 3 Pages: 285-287

    • DOI

      10.1111/vox.12363

    • Related Report
      2016 Research-status Report 2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Use of postmortem coronary computed tomography angiography with water-insoluble contrast medium to detect stenosis of the left anterior descending artery in a case of sudden death.2016

    • Author(s)
      Takahashi Y, Sano R, Takahashi K, Kominato Y, Takei H, Kobayashi S, Shimada T, Tokue H, Awata S, Hirasawa S.
    • Journal Title

      Leg Med.

      Volume: 19 Pages: 47-51

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] BO alleles are linked with haplotypes of an erythroid cell-specific regulatory element in intron 1 with a few exceptions attributable to genetic recombination.2016

    • Author(s)
      Nakajima T, Sano R, Takahashi Y, Watanabe K, Kubo R, Kobayashi M, Takahashi K, Takeshita H, Kominato Y.
    • Journal Title

      Vox Sang.

      Volume: 11 Issue: 1 Pages: 90-92

    • DOI

      10.1111/vox.12312

    • Related Report
      2016 Research-status Report 2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Association of a single nucleotide polymorphism (rs6180 ) in GHR gene with plural tissue weight.2016

    • Author(s)
      Fujihara J, Kimura-Kataoka K, Yasuda T, Sano R, Kominato Y, Takeshita H.
    • Journal Title

      J Genet.

      Volume: 95 Pages: 189-192

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Intestinal obstruction in a mentally retarded patient due to pica.2015

    • Author(s)
      Tokue H, Takahashi Y, Hirasawa S, Awata S, Kobayashi S, Shimada T, Tokue A, Sano R, Kominato Y, Tsushima Y.
    • Journal Title

      Ann Gen Psychiatry.

      Volume: 14 Pages: 22-22

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Characterization of five cases of suspected bathtub suicide.2015

    • Author(s)
      Murayama M, Takahashi Y, Sano R, Watanabe K, Takahashi K, Kubo R, Kuninaka H, Kominato Y
    • Journal Title

      Leg Medicine.

      Volume: 13 Issue: 6 Pages: 576-578

    • DOI

      10.1016/j.legalmed.2015.07.005

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Global analysis of genetic variations in a 56-bp variable number of tandem repeat polymorphisms within the human deoxyribonuclease I gene.2015

    • Author(s)
      Fujihara J, Yasuda T, Iida R, Ueki M, Sano R, Kominato Y, Inoue K, Kimura-Kataoka K, Takeshita H.
    • Journal Title

      Leg Medicine.

      Volume: 17 Pages: 283-286

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Brain fragility can be estimated by its putative signs on postmortem computed tomography.2015

    • Author(s)
      Watanabe K, Takahashi Y, Sano R, Nakajima T, Kominato Y, Kobayashi S, Shimada T, Takei H, Awata S, Hirasawa S.
    • Journal Title

      Legal Medicine.

      Volume: 1 Pages: 98-101

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [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

      10.1111/vox.12216

    • Related Report
      2015 Research-status 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
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] ABO 遺伝子の転写調節領域の変異により血液型亜型Am型、A3型、B3型が生じる2015

    • Author(s)
      高橋遥一郎, 佐野利恵, 中島たみ子, 小湊慶彦
    • Journal Title

      DNA多型

      Volume: 23 Pages: 103-107

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Presentation] 法医分子病理学的解析の実際-脂肪酸代謝異常2症例の提示と、被虐待児への応用可能性に」ついて-2017

    • Author(s)
      高橋遥一郎
    • Organizer
      第101次日本法医学会学術全国集会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] ABO式血液型遺伝子とそのパラログ、オーソログの遺伝子解析による種判別法2016

    • Author(s)
      佐野利恵, 高橋遥一郎, 窪理英子, 福田治紀, 竹下治男, 藤原純子, 小湊慶彦.
    • Organizer
      日本DNA多型学会第25回学術集会
    • Place of Presentation
      千葉 東京大学大気海洋研究所
    • Year and Date
      2016-12-02
    • Related Report
      2016 Research-status Report
  • [Presentation] 頭蓋底骨折に伴う血管損傷の検索に死後CT血管造影検査が有用であった一例2016

    • Author(s)
      國中光, 高橋遥一郎, 佐野利恵, 窪理英子, 髙橋圭子, 小湊慶彦
    • Organizer
      第85回日本法医学会学術関東地方集会
    • Place of Presentation
      神奈川 神奈川歯科大学
    • Year and Date
      2016-10-29
    • Related Report
      2016 Research-status Report
  • [Presentation] ABO遺伝子の発現量変動の機序解明と、薬剤刺激による血液型抗原量の制御2016

    • Author(s)
      高橋遥一郎, 佐野利恵, 高橋圭子, 窪理英子, 中島たみ子, 小湊慶彦
    • Organizer
      第100次日本法医学会学術全国集会
    • Place of Presentation
      東京 きゅりあん(品川区立総合区民会館)
    • Year and Date
      2016-06-17
    • Related Report
      2016 Research-status Report
  • [Presentation] 死後冠動脈CT造影検査が冠動脈血栓の組織学的検索に有効であった急死例2016

    • Author(s)
      高橋遥一郎, 佐野利恵, 小湊慶彦
    • Organizer
      第100次日本法医学会学術全国集会
    • Place of Presentation
      東京 きゅりあん(品川区立総合区民会館)
    • Year and Date
      2016-06-17
    • Related Report
      2016 Research-status Report
  • [Presentation] ABO式血液型遺伝子エンハンサーのハプロタイプはABO遺伝子型とリンクしている2016

    • Author(s)
      中島たみ子, 佐野利恵, 高橋遥一郎, 竹下治男, 安田年博, 小湊慶彦
    • Organizer
      第100次日本法医学会学術全国集会
    • Place of Presentation
      東京 きゅりあん(品川区立総合区民会館)
    • Year and Date
      2016-06-17
    • Related Report
      2016 Research-status Report
  • [Presentation] ABO式血液型遺伝子エンハンサーハプロタイプの型特異性2016

    • Author(s)
      佐野利恵, 中島たみ子, 高橋遥一郎, 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
      2016 Research-status Report
  • [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
      2016 Research-status Report
  • [Presentation] Bm型では赤血球系細胞においてB遺伝子の発現が極めて低下している-CD34陽性細胞を用いた赤血球系細胞への分化培養実験ー2015

    • Author(s)
      佐野利恵、中島たみ子、高橋遥一郎、小湊慶彦
    • Organizer
      日本DNA多型学会第24回学術集会
    • Place of Presentation
      岡山 岡山大学創立五十周年記念会館
    • Year and Date
      2015-11-20
    • Related Report
      2015 Research-status Report
  • [Presentation] ABO式血液型遺伝子エンハンサーハプロタイプの型特異性2015

    • Author(s)
      中島 たみ子、佐野利恵、高橋遥一郎、窪 理英子、高橋圭子、小林もも子、
    • Organizer
      日本DNA多型学会第24回学術集会
    • Place of Presentation
      岡山 岡山大学創立五十周年記念会館
    • Year and Date
      2015-11-20
    • Related Report
      2015 Research-status Report
  • [Presentation] Growth hormone receptor(GHR)遺伝子におけるSNP(rs6180)と臓器重量との関連2015

    • Author(s)
      藤原純子、竹下治男、木村かおり、植木美鈴、安田年博、佐野利恵、小湊慶彦、倉田さつき
    • Organizer
      日本DNA多型学会第24回学術集会
    • Place of Presentation
      岡山 岡山大学創立五十周年記念会館
    • Year and Date
      2015-11-20
    • Related Report
      2015 Research-status Report
  • [Presentation] 浴槽内での自殺が疑われた5症例の検討2015

    • Author(s)
      村山真之、高橋遥一郎、佐野利恵、小湊慶彦
    • Organizer
      第84回日本法医学会学術関東地方集会
    • Place of Presentation
      東京 日本歯科大学生命歯学部 富士見ホール
    • Year and Date
      2015-10-24
    • Related Report
      2015 Research-status Report
  • [Presentation] 死後CT検査により同定された左室心筋石灰化、心肥大が診断の一助となった左冠動脈肺動脈起始症の一症例2015

    • Author(s)
      佐野利恵、高橋遥一郎、中島たみ子、小湊慶彦
    • Organizer
      第99次日本法医学会学術全国集会
    • Place of Presentation
      高知 高知市文化プラザ かるぽーと
    • Year and Date
      2015-06-12
    • Related Report
      2015 Research-status Report
  • [Presentation] 特異な状況下で生じた空気塞栓症の診断に死後画像検査が有用であった一例2015

    • Author(s)
      高橋遥一郎、佐野利恵、中島たみ子、小湊慶彦
    • Organizer
      第99次日本法医学会学術全国集会
    • Place of Presentation
      高知 高知市文化プラザ かるぽーと
    • Year and Date
      2015-06-12
    • Related Report
      2015 Research-status Report
  • [Presentation] 酸化亜鉛ナノ粒子の静脈投与後の毒性精査2015

    • Author(s)
      藤原純子、木村かおり、竹下治男、飯田礼子、安田年博、佐野利恵、小湊慶彦
    • Organizer
      第99次日本法医学会学術全国集会
    • Place of Presentation
      高知 高知市文化プラザ かるぽーと
    • Year and Date
      2015-06-12
    • Related Report
      2015 Research-status Report
  • [Presentation] Bm型では赤血球系細胞においてB遺伝子発現が極めて低下している-CD34陽性細胞を用いた分化培養実験-2015

    • Author(s)
      佐野利恵、中島たみ子、高橋遥一郎、竹下治男、安田年博、岸田哲子、小湊慶彦
    • Organizer
      第99次日本法医学会学術全国集会
    • Place of Presentation
      高知 高知市文化プラザ かるぽーと
    • Year and Date
      2015-06-11
    • Related Report
      2015 Research-status Report
  • [Presentation] Pathological and genetic mechanism of FAO disorders in two infants of sudden unexpected death.2015

    • Author(s)
      高橋遥一郎、佐野利恵、中島たみ子、小湊慶彦
    • Organizer
      第99次日本法医学会学術全国集会
    • Place of Presentation
      高知 高知市文化プラザ かるぽーと
    • Year and Date
      2015-06-11
    • Related Report
      2015 Research-status Report

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Published: 2015-04-16   Modified: 2019-03-29  

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