Imaging genetics analysis in autism spectrum disorder

2014 Fiscal Year Final Research Report

• Project/Area Number: 25861013
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: The University of Tokushima
• Principal Investigator: ITO Hiromichi 徳島大学, 大学病院, 特任助教 (10398018)
• Research Collaborator: IMOTO Issei ; MORI Kenji ; TODA Yoshihiro ; KAGAMI Shoji
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 自閉症スペクトラム障害 / イメージング / MRI / 1H-MRS / ゲノム解析

Outline of Final Research Achievements

① Proton magnetic resonance spectroscopy (1H-MRS) findings in autism spectrum disorder (ASD): We used 1H-MRS to investigate metabolite concentration ratios (adjusted by creatine/phosphocreatine (Cr)) in the anterior cingulate cortex (ACC) and left cerebellum in no less than 100 ASD. The control group included non-autistic below-normal intelligence quotient (IQ) and typically developed children. Typically developed children were investigated by brain MRI and 1H-MRS due to mild headache and no abnormalities were found. In the ASD group, Gamma-aminobutyric acid (GABA)＋/Cr was decreased in the ACC, and glutamate (Glu)/Cr was increased and GABA＋/Cr was decreased in the left cerebellum compared to those in the control. ② Genetic analysis in ASD: Approximately 30 subjects in ASD were analyzed. Target re-sequence in known ASD associated genes revealed no redundant mutations. It was difficult to classify pathophysiology in ASD by the genetic polymorphism or variation.

Free Research Field

小児神経学