| Project/Area Number |
22591181
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Ehime University |
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Principal Investigator |
HIGAKI Takashi 愛媛大学, 医学部附属病院, 准教授 (60253308)
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| Co-Investigator(Kenkyū-buntansha) |
EGUCHI Mariko 愛媛大学, 大学院・γ医学系研究科, 准教授 (40420781)
EGUCHI Minenari 愛媛大学, 医学部附属病院, 講師 (50420782)
鹿田 文昭 愛媛大学, 医学部附属病院, 助教 (90457359)
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| Co-Investigator(Renkei-kenkyūsha) |
SHIKATA Fumiaki 愛媛大学, 医学部附属病院, 講師 (90457359)
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 小児循環器学 / 先天性心疾患 / 遺伝子異常 / FLK1陽性細胞 / 心筋 / MLPA法 |
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| Research Abstract |
To identify the gene mutations responsible for the cardiac malformations in congenital heart diseases, pieces of cardiac tissue excised from patients during cardiac surgery were analyzed for the presence of mutations in genes involved in cardiac development. Direct sequencing analysis of several candidate genes such as TBX1 and ISL1 failed to discover any disease-causing mutations in all the genes examined so far. Circulating FLK1-positive cells in peripheral blood, which are mobilized from the bone marrow after endothelial cell injury, such as catheter intervention, could be a substitute for cardiac cells because both cells originate from the mesodermal FLK1-positive cells during fetal development. Mutational analyses with peripheral FLK1-positive cells of patients whose cardiac tissue are not obtainable are now ongoing.
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