| Project/Area Number |
15K09677
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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 | National Center for Child Health and Development |
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Principal Investigator |
Kawai Toshinao 国立研究開発法人国立成育医療研究センター, 生体防御系内科部免疫科, 医長 (20328305)
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| Co-Investigator(Kenkyū-buntansha) |
小野寺 雅史 国立研究開発法人国立成育医療研究センター, 成育遺伝研究部, 部長 (10334062)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 原発性免疫不全症 / 慢性肉芽腫症 / 炎症 / 感染症 / 食細胞機能異常症 / 自己炎症性疾患 |
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| Outline of Final Research Achievements |
Chronic granulomatous disease (CGD) is a rare inherited disorder characterized by an inability of phagocytes to produce reactive oxygen species (ROS), leading to life-threatening infections and aseptic granulomatous colitis (AGC). In this study, we assessed the function of a novel mutation of gp91phox, which causes decreasing of gp91phox expression because of instability of mutant gp91phox mRNA, leading to a slight reduction of ROS generation in phagocytes. This suggests that the slight attenuation of neutrophil and monocyte ability to produce ROS could affect the ability to kill pathogens and affect regulation of inflammatory responses in the patient.
In current gene therapy for CGD, it is difficult to achieve high gene marking for long term after gene therapy; however, gene modified phagocytes could produce ROS reaching to that of healthy subjects. This indicates that gene therapy would improve clinical feature in CGD.
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