2019 Fiscal Year Final Research Report
Elucidation of mechanism of pathogenesis of paroxysmal nocturnal hemoglobinuria
| Project/Area Number |
17K09904
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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 |
Hematology
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| Research Institution | Osaka University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
植田 康敬 大阪大学, 医学系研究科, 助教 (30533848)
西村 純一 大阪大学, 医学系研究科, 助教 (80464246)
金倉 譲 大阪大学, 医学系研究科, 教授 (20177489)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | 発作性夜間ヘモグロビン尿症 / 血液 / PNH / 骨髄不全症 / bone marrow failure |
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| Outline of Final Research Achievements |
Paroxysmal nocturnal hemoglobinuria (PNH) is considered to be an acquired stem cell disease based on series of experiments including those using mouse models. We performed whole exome sequencing and targeted deep sequencing for intrafamilial PNH patients for the first time in Japan. However, we could not identify gene mutations that might be involved in the etiology of PNH in intrafamilial pair. Based on the above, it is highly possible that these cases have developed sporadic PNH in a parent and a child, and the results further support the conventional understanding that PNH is an acquired disease.
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| Free Research Field |
血液学
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| Academic Significance and Societal Importance of the Research Achievements |
PNHの主たる原因は、PIGA（Phosphatidylinositol glycan anchor biosynthesis, class A）遺伝子を始めとした、GPI (glycosylphosphatidylinositol) アンカー型蛋白質の生合成に関わる遺伝子の変異である。PIGAノックアウトマウスは胎生致死を来すため、PNHは後天性疾患であるとされてきた。本症例の遺伝子解析でも親子で異なるPIGA遺伝子変異を認めており、PNHにおいてもPIGA遺伝子変異が遺伝する可能性は極めて低いことが示唆される。
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