Comprehensive analysis for copy number variant in the whole genome of Japanese patients with autism spectrum disorder

2016 Fiscal Year Final Research Report

• Project/Area Number: 25461531
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Hokkaido University
• Principal Investigator: Satoh Daisuke 北海道大学, 医学研究科, 客員研究員 (60516681)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 自閉症

Outline of Final Research Achievements

Initially, I have tired to find genetic abnormality in autism spectrum disorders by comprehensive analyses for whole genome. Although I have successively found a gene abnormality in the specific chromosome in some patients, the majority of patients did not show any specific abnormality in my gene sequence. For deeper understanding of the mechanisms of autism, I next analyzed electrophysiological functions in a model mouse of genetically confirmed autism spectrum disorder, UBE3A deficit mouse. I have illustrated that tonic inhibitory function is specifically decreased in the cortex or hippocampus, but not the thalamus in UBE3A deficit mouse. Because similar decrements have been recently shown in other autism models, the deficiency of tonic inhibition might be a common pathophysiology of autism spectrum disorders. On the others, my finding which shows the imbalance of inhibition among brain region can provoke a novel hypothesis for the mechanism in autism spectrum disorder.

Free Research Field

小児神経学