2014 Fiscal Year Final Research Report
Elucidation of the new pathways about onset of the childhood pulmonary arterial hypertension
| Project/Area Number |
24591588
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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 |
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| Co-Investigator(Kenkyū-buntansha) |
FURUTANI Yoshiyuki 東京女子医科大学, 医学部, 助教 (10424673)
SHINTANI Masaki 東京女子医科大学, 医学部, 非常勤講師 (10578537)
NAKANISHI Toshio 東京女子医科大学, 医学部, 教授 (90120013)
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| Co-Investigator(Renkei-kenkyūsha) |
CHIDA Ayako 東京女子医科大学, 医学部 (10622160)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 特発性肺動脈性肺高血圧症 / 遺伝子変異 |
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| Outline of Final Research Achievements |
We screened IPAH patients without a known genetic mutation for mutations in genes related to the Delta/Notch signaling pathway, and detected X gene mutations involved in the signal transduction pathway. For mutagenesis, we prepared the gene expression vector X of the X gene variants. When immunostaining was performed for expression detection in stable cell lines introduced with a wild or a mutant expression vector, the mutant expression strain showed decreased X protein expression levels, and large declines in the residual amount of X protein were observed after 48 hours. Expression of the endoplasmic reticulum chaperone was remarkably reduced in the mutant expression strains, and translocation of a portion of the chaperones from the endoplasmic reticulum to the nucleus was observed.
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| Free Research Field |
循環器小児科学
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