Genetic and molecular analyses of causative genes for autism-spectrum disorders

2015 Fiscal Year Final Research Report

• Project/Area Number: 25670488
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research, Aichi Human Service Center
• Principal Investigator: Nagata Koh-ichi 愛知県心身障害者コロニー発達障害研究所, 神経制御学部, 部長 (50252143)
• Co-Investigator(Kenkyū-buntansha): 山形 崇倫 自治医科大学, 医学部, 教授 (00239857)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 自閉性障害 / 神経細胞 / 大脳皮質構築

Outline of Final Research Achievements

While many different biological causes have been implicated in the etiologies of neurodevelopmental disorders such as autism-spectrum disorder (ASD), genetic factors are considered to be the most important. Thus, it is essential to clarify the pathophysiological significance of respective disease-related genes in brain development. To address this issue, we performed genetic analyses of ASD patients and found a single amino acid mutation in a patient. We then carried out a comprehensive analyses with in utero electroporation including cortical neuron migration, axon elongation, dendrite developmentand live-imaging. Consequently we found abnormal phenotypes in the above analyses.

Free Research Field

小児神経科学