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

2017 Fiscal Year Final Research Report

• 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
• Keywords: 脂肪酸代謝異常 / 突然死

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.

Free Research Field

法医学