Study for Pathogenesis of Cerebral Creatine Deficiency Syndromes

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461544
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kyoto University
• Principal Investigator: WADA Takahito 京都大学, 医学研究科, 准教授 (70359727)
• Research Collaborator: OHTSUKI Sumio 熊本大学, 大学院生命科学研究部, 教授 (60323036)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 知的障害 / クレアチン / トランスポーター / 先天性代謝異常

Outline of Final Research Achievements

Creatine transporter deficiency is caused by mutations of SLC6A8 gene, leading to low concentration of creatine in cells in the brain, and is characterized with intellectual disability, epilepsy, autistic spectrum disorders, and delayed speech development. The aim of this study is to clarify the pathogenesis of this disease. During this year, we have 1) established the system to register patients to collect their clinical and genetic information, 2) prepared patients-derived fibroblast and iPS cells as bioresources for basic research, 3) developed the system analyzing creatine matabolites by high-performance liquid chromatography, and 4) demonstrated that mutated transporter of a patient-derived cell localized abnormally　in the cell, causing to reduce its transport ability. Our result suggests that the strategy to find a treatment for the patient is to search chemicals with ability to transfer the abnormally localized transporters to plasma membrane.

Free Research Field

小児神経学