2022 Fiscal Year Final Research Report
Development of a predictive method for cerebral onset of adrenoleukodystrophy by multiomics analysis
| Project/Area Number |
20H03640
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Gifu University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
才津 浩智 浜松医科大学, 医学部, 教授 (40402838)
横山 和明 帝京大学, 薬学部, 教授 (50246021)
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| Project Period (FY) |
2020-04-01 – 2023-03-31
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| Keywords | 副腎白質ジストロフィー / 発症因子 / マルチオミクス解析 / 炎症性脱髄 / 酸化リン脂質 / 発症早期診断 |
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| Outline of Final Research Achievements |
A multiomics analysis was performed to search for factors associated with the development of the cerebral form of adrenoleukodystrophy (ALD). Comparative analysis of the transcriptomes of CCALD and AMN patients identified a gene A that functions as a suppressor of inflammatory responses. Lipid metabolome analysis identified oxidized phospholipid molecular species in plasma from male ALD patients. Although the present study did not directly identify factors that lead to the prediction of cerebral type onset, it did identify multiple factors related to the onset of the disease, which may lead to early diagnosis of the disease. In the future, we will develop a method for early diagnosis of disease onset based on a longitudinal study of pre-onset patients diagnosed by newborn screening.
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| Free Research Field |
先天代謝異常症
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| Academic Significance and Societal Importance of the Research Achievements |
現在、副腎白質ジストロフィーでは新生児スクリーニングによる早期診断から長期フォローアップによりできるだけ発症早期に移植をして予後を改善させる取り組みが国内外で広がっている。大脳型において臨床症状が出現する前の発症診断として現状では脳MRIが唯一の方法であるが、本研究成果により採血による早期発症診断が可能になればその社会的意義は極めて大きく、更なる新生児スクリーニングの普及から疾患克服につながる可能性がある。
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