| Budget Amount *help |
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2018: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2017: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2016: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
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| Outline of Final Research Achievements |
Targeted sequencing system for disease genes of hereditary cardiomyopathy and/or hereditary arrhythmia was developed. RBM20 mutations in dilated cardiomyopathy were demonstrated for functional alterations. A novel disease gene for hypertrophic cardiomyopathy was identified, which altered methylation status of several specific loci in genome DNA. Analysis of transgenic mice specifically expressing human M21 in the heart demonstrated that high expression of M21 lead to cardiomyocytes hypertrophy with myofibrillar disarrays and later development of systolic dysfunction resembling to dilated phase hypertrophic cardiomyopathy, while low expression of M21 did not. Gene expression study revealed that expression of cardiac remodeling genes were altered even in the hearts from mice with low expressing M21, while MAP kinase and TGFb pathways were specifically changed only in the hearts from mice with high expression of M21.
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