Fundamental study for clinical application of autistic spectrum with peroxisome lipid metabolism abnormality

2017 Fiscal Year Final Research Report

• Project/Area Number: 26461529
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Saitama Medical University
• Principal Investigator: Mizuno Yumi 埼玉医科大学, 医学部, 客員講師 (20584014)
• Co-Investigator(Kenkyū-buntansha): 仲地 豊 埼玉医科大学, 医学部, 助教 (10522097)
• Co-Investigator(Renkei-kenkyūsha): OHTAKE Akira 埼玉医科大学, 医学部, 教授 (00203810) ; MIZUNO Yosuke 埼玉医科大学, 医学部, 講師 (30406532) ; OKAZAKI Yasushi 埼玉医科大学, 医学部, 客員教授 (80280733)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: ペルオキシソーム / 自閉症 / 脂質代謝異常

Outline of Final Research Achievements

In recent years, there have been reports that mutations were found in the causative genes of peroxisomal disease, as well as decreased lipid metabolism of peroxisomes in autistic spectrum patients. Applicants have analyzed using mice deficient in Tysnd 1 (Trypsin domain containing 1) which is one of peroxisomal proteins, and as a result, autism-like behavior abnormalities were observed in Tysnd1 -deficient mice.Therefore the abnormality of lipid metabolism of peroxisomes by Tysnd1 deficiency was thought to be related to autism. In this study, we aimed to clarify the relationship between abnormal lipid metabolism of peroxisome and the onset mechanism of autism spectrum.

Free Research Field

生化学・分子生物学