Comprehensive gene analysis of acute encephalopathy to elucidate its variability and commonality

2015 Fiscal Year Final Research Report

• Project/Area Number: 24390258
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: The University of Tokyo
• Principal Investigator: MIZUGUCHI Masashi 東京大学, 医学(系)研究科(研究院), 教授 (20209753)
• Co-Investigator(Kenkyū-buntansha): TAKANASHI Jun-ichi 東京女子医科大学, 八千代医療センター, 教授 (00302555) ; SAITOH Makiko 東京大学, 大学院医学系研究科, 助教 (20225733)
• Co-Investigator(Renkei-kenkyūsha): HIROSE Shin-ichi 福岡大学, 医学部, 教授 (60248515) ; YAMANOUCHI Hideo 埼玉医科大学, 医学部, 教授 (10250226)
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 急性脳症 / 遺伝子多型 / 遺伝子変異 / 自然免疫 / 神経興奮 / 急性壊死性脳症 / けいれん重積型（二相性）急性脳症 / 難治頻回部分発作重積型急性脳炎

Outline of Final Research Achievements

Acute encephalopathy is classified into multiple syndromes, such as acute necrotizing encephalopathy (ANE), acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and acute encephalitis with refractory, repetitive partial seizures (AERRPS). To elucidate the molecular background of their variability and commonality, we conducted a comprehensive gene analysis and functional analysis. Risk gene variants specific to individual syndromes included HLA genotypes, IL6 and IL10 polymorphisms for ANE, ADORA2A and IL1B polymorphisms for AESD, and SCN2A polymorphism for AERRPS. Risk variants relevant to multiple syndromes included CPT2 and IL1RN polymorphisms and missense SCN1A mutations. Most factors were involved in either innate immunity or neuronal excitation.

Free Research Field

小児神経学、神経病理学