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

Research Project

Project/Area Number 25461531
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionHokkaido 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
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords自閉症 / 遺伝子 / マイクロアレイ / コピー数多型 / 自閉症スペクトラム障害
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.

Report

(5 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • 2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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