2022 Fiscal Year Final Research Report
Mitochondrial Disease as a Cause of Leukoencephalopathy and Dementia: A Search for the Causal Genes of Mitochondrial Disease
Project/Area Number |
20K07906
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 52020:Neurology-related
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Research Institution | Kagoshima University |
Principal Investigator |
Okamoto Yuji 鹿児島大学, 医歯学域医学系, 教授 (60709658)
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Project Period (FY) |
2020-04-01 – 2023-03-31
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Keywords | ミトコンドリア病 / 白質脳症 / GDF-15 / 髄液メタボローム解析 |
Outline of Final Research Achievements |
Mitochondrial diseases are characterized by diverse pathologies, with many cases of unknown etiology.We hypothesize that mitochondrial diseases are potentially present in older adults and aim to elucidate the causative genes for latent adult and late-onset mitochondrial diseases, as well as their impact on leukoencephalopathy and dementia. We have utilized next-generation sequencing for complete mitochondrial DNA sequencing. However, we confirmed the need to expand the search range further, as relying solely on reported genes does not improve diagnostic efficiency. We have also been investigating disease markers critical for diagnosis, specifically examining the utility of serum GDF-15 as a biochemical marker in older adults and leukoencephalopathy cases. Although, it could not serve as a marker for central mitochondrial disease. In this study, we conducted metabolomic analyses of cerebrospinal fluid and identified multiple cerebrospinal fluid marker candidates.
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Free Research Field |
脳神経内科学
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Academic Significance and Societal Importance of the Research Achievements |
ミトコンドリアは、細胞のエネルギー産生に関与する小器官で、その異常であるミトコンドリア病は出生時から老年期に渡り存在することがわかってきました。しかし、高齢者におけるミトコンドリア病の診断は難しいのが現状のため、高齢発症ミトコンドリア病の原因遺伝子を明らかにし、白質脳症・認知症に及ぼす影響を明らかにすることを目的として本研究を行ないました。本研究では既存の遺伝子を167選択し調べましたが、さらに検索範囲を広げる必要性を確認しました。また、病態のマーカーとして髄液のメタボローム解析を行い、新規バイオマーカー候補をいくつか発見しました。ミトコンドリア病の髄液を用いた研究はこれまでにない研究です。
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