| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Outline of Final Research Achievements |
BMPR2 has been reported as a causative gene for pulmonary arterial hypertension (PAH), but the pathogenic mechanism of PAH due to BMPR2 mutations has not been elucidated. We also identified RNF213 as a new susceptibility gene for PAH. In this study, we generated genetically modified mice with hot-spot mutations in BMPR2 and RNF213, respectively. Single-cell analysis using BMPR2 mutant mice has led to the elucidation of the pathogenic mechanism of PAH onset due to changes in gene expression levels of cells in lung tissue. In addition, verification using RNF213 mutant mice has led to the elucidation of the downstream signal pathway of RNF213 leading to the onset of angiopathy.
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