Personal genome analysis of genes for Parkinson's disease and cognitive function

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129006
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Kobe University
• Principal Investigator: TODA Tatsushi 神戸大学, 医学研究科, 教授 (30262025)
• Co-Investigator(Kenkyū-buntansha): KOBAYASHI Kazuhiro 神戸大学, 大学院医学研究科, 准教授 (90324780)
• Co-Investigator(Renkei-kenkyūsha): SATAKE Wataru 神戸大学, 大学院医学研究科, 助教 (50467594)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: パーソナルゲノム / パーキンソン病 / 認知機能 / 多型 / 次世代シーケンサー

Outline of Final Research Achievements

We conducted personal genome analyses with our main focus on Parkinson’s disease and human cognitive function.
To detect rare but strong risk factors for Parkinson’s disease, we performed whole-exome sequencing and case-control association studies, and detected in LRRK 2 region 2 SNVs that cause amino acid substitution, which is a moderate risk factor for the disease. We also conducted genome-wide DNA methylation and gene expression analyses using 34 samples from 17 pairs of monozygotic twins discordant intelligently, and detected the differences among the twins with higher IQ and lower IQ in the expressions of several mitochondrial ribosomal protein-coding genes, DNA helicase-related genes, and ion channel-related genes.
Also, the exome analysis we performed on a large Chinese family with autosomal dominant myopathy detected a 3-bp in-frame deletion in the MYH7 gene and diagnosed the disease as Laing distal myopathy, which is the first LDM case in East Asia.

Free Research Field

神経内科学、人類遺伝学、ゲノム医学、認知神経科学