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

2022 Fiscal Year Final Research Report

• Project/Area Number: 18K10118
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 58040:Forensics medicine-related
• 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) ; 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)
• Project Period (FY): 2018-04-01 – 2023-03-31
• Keywords: 脂肪酸代謝異常 / 突然死

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.

Free Research Field

法医学

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。