| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
This study aimed to elucidate the phenotype-genotype relationship in the inherited arrhythmias and reveal the underlying mechanisms, especially, using a newly developed technology, ’patient specific induced pluripotent stem (iPS) cell model’. We identified a cardiac sodium channel mutation in a patient with sinus node dysfunction and epinephrine-induced QT prolongation. The electrophysiological properties of the mutant channels were closely associated with the overlapping clinical features of the patient. Regarding the disease-specific iPS model, we generated CPVT-iPS cell model and recapitulated arrhythmogenic features which were suppressed by a promising compound, S107. In addition, we established long QT syndrome-iPS model associated with an L-type Ca channel gene mutation and identified the impaired inactivation in the mutant channels. In LMNA-related cardiomyopathy, we investigated the impact of the type of mutation to the development of decreased left ventricular function.
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