Exome and Expression analyses of mental disorders.

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K15563
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Ehime University
• Principal Investigator: Ueno Shuichi 愛媛大学, 医学系研究科, 教授 (80232768)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: エクソーム解析 / 家系解析 / 精神障害 / 遺伝子発現

Outline of Final Research Achievements

To study the genes of mental disorders, I studied 2 families by exome and expression analyses. One family had 7 members with mental retardation, muscle weakness, and psychosis. Another family had mental retardation without secondary sexual development. With informed consents, exome analyses were held in these two family members. In the first family, I addressed 7 genes but did not decide the responsible gene yet. In the second family, one gene might have a disease specific mutation. Although the disease is suggested as an autosomal recessive one, two affected members were heterozygotes, so we studied the mRNA expression of the gene in their leukocytes but there were no expressional changes in either affected members. Further studies should be needed to understand their pathogeneses by adding other family members or other families diagnosed as the same disease and/or by studying the disorders with knockout animal models.

Free Research Field

精神医学