|Budget Amount *help
¥187,070,000 (Direct Cost : ¥143,900,000、Indirect Cost : ¥43,170,000)
Fiscal Year 2014 : ¥34,320,000 (Direct Cost : ¥26,400,000、Indirect Cost : ¥7,920,000)
Fiscal Year 2013 : ¥36,140,000 (Direct Cost : ¥27,800,000、Indirect Cost : ¥8,340,000)
Fiscal Year 2012 : ¥38,090,000 (Direct Cost : ¥29,300,000、Indirect Cost : ¥8,790,000)
Fiscal Year 2011 : ¥37,700,000 (Direct Cost : ¥29,000,000、Indirect Cost : ¥8,700,000)
Fiscal Year 2010 : ¥40,820,000 (Direct Cost : ¥31,400,000、Indirect Cost : ¥9,420,000)
|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.