2016 Fiscal Year Final Research Report
Novel gene mutations in the pediatric patients with pulmonary arterial hypertension
| Project/Area Number |
26461623
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tokyo Women's Medical University |
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Principal Investigator |
Inai Kei 東京女子医科大学, 医学部, 講師 (80318063)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | 遺伝子変異 / 肺高血圧症 |
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| Outline of Final Research Achievements |
Pulmonary arterial hypertension (PAH) is a progressive, fatal disease even in the pediatric patients.Genetic mutations in the BMPR2 gene, ALK1 gene, and SMAD8 gene etc. have been detected in PAH so far. But, about 60% of PAH patients have no mutations. This fact indicates that there remain unidentified genes associated with PAH.
We detected novel mutations in HIVEP gene, which is in the BMP/TGFb signal cascade in two idiopathic PAH patients.However,in protein functional analysis, we have not yet shown the evidence of disease causality of thease mutations.
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| Free Research Field |
循環器小児科学
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