2020 Fiscal Year Final Research Report
Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiency
| Project/Area Number |
18KK0228
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| Research Category |
Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
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| Allocation Type | Multi-year Fund |
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| Review Section |
Medium-sized Section 49:Pathology, infection/immunology, and related fields
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| Research Institution | Hiroshima University |
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Principal Investigator |
OKADA SATOSHI 広島大学, 医系科学研究科(医), 教授 (80457241)
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| Co-Investigator(Kenkyū-buntansha) |
金兼 弘和 東京医科歯科大学, 大学院医歯学総合研究科, 寄附講座教授 (00293324)
小原 收 公益財団法人かずさDNA研究所, その他部局等, 副所長 (20370926)
川島 祐介 公益財団法人かずさDNA研究所, ゲノム事業推進部, 研究員 (30588124)
津村 弥来 広島大学, 医系科学研究科(医), 研究員 (80646274)
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| Project Period (FY) |
2018-10-09 – 2021-03-31
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| Keywords | マルチオミックス解析 / ターゲットRNAシーケンス / プロテオーム解析 / 原発性免疫不全症 / 未診断症例 / STAT1 |
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| Outline of Final Research Achievements |
We performed multi-omics analysis, which systematically investigate RNA and protein expression, on primary immune deficiency (PID) patients who lack genetic etiologies after systemic genetic studies. Multi-omics analysis newly identified mutations in five PID patients. The detection rate of mutations by multi-omics analysis was thought to be approximately 7%. One patient was given a diagnosis of complete STAT1 deficiency. Based on the diagnosis, the patient was treated with hematopoietic stem cell transplantation and was fully recovered from life-threatening infections. As for the other four mutations, we are currently investigating their pathogenesis by in vitro an ex vivo experiments. This study successfully revealed that multi-omics analysis has a potential to improve the diagnostic yield in undiagnosed PID patients after systemic genetic studies.
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| Free Research Field |
感染免疫
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| Academic Significance and Societal Importance of the Research Achievements |
従来の網羅的遺伝子解析で診断に至らない原発性免疫不全症患者に対して、マルチオミックス解析を行うことで診断率向上が可能であることを示すことができた。未診断疾患患者に対して適切な診断がもたらされることは、治療法の選択、予後の推定、遺伝性の推定のうえでも重要となる。本手法は、原発性免疫不全症のみならず、他の遺伝性疾患の診断にも応用可能であり、未診断疾患患者における診断率向上への貢献が期待できる。
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