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ミトコンドリア脳筋症におけるヘテロプラスミー(heteroplasmy)と臨床症状,病理所見の関連性の研究
http://hdl.handle.net/10191/3587
http://hdl.handle.net/10191/35876f7def0f-e1c9-424a-9072-ac0b78ecfa90
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
KJ00000142019.pdf (2.3 MB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2007-05-10 | |||||
| タイトル | ||||||
| タイトル | ミトコンドリア脳筋症におけるヘテロプラスミー(heteroplasmy)と臨床症状,病理所見の関連性の研究 | |||||
| タイトル | ||||||
| タイトル | ミトコンドリア脳筋症におけるヘテロプラスミー(heteroplasmy)と臨床症状,病理所見の関連性の研究 | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | jpn | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | MERRF | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | MELAS | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | heteroplasmy | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | SSCP | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | autopsied tissues | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| その他のタイトル | ||||||
| その他のタイトル | The Correlation of the Heteroplasmy of mtDNA and Clinicopathological Findings in the Patients with Mitochondrial Encephalomyopathies | |||||
| 著者 |
丹野, 芳範
× 丹野, 芳範 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | In most cases of the mitochondrial encephalomyopathies, the mutations of mtDNA usually appear in heteroplasmic states. The degree of mtDNA heteroplasmy has been suggested to play an important role in determining the clinical phenotypes and the organspecific defects. We devised a novel method for quantitative analysis of heteroplasmy using PCR-SSCP, which is useful to accurately quantitate heteroplasmy of very small amount of samples. Using this method, we analyzed the heteroplasmy of skeletal muscles or leucocytes from 12 cases of MERRF, 5 cases of MELAS, and 1 case of MERRF/MELAS overlap syndrome associated with 3243 tRNA^<Leu(UUR)> mutation. We furthermore analyzed 5 autopsied cases (2 MERRF and 2 MELAS, 1 MERRF/MELAS overlap syndrome patients), and the cellular or organellar distributions of heteroplasmy of CNS in MERRF patients. Though there is a tendency that patients with high percentages of mutant mtDNAs in their skeletal muscles show severer clinical symptoms and earlier onset than those with low percentages, no obvious correlation was observed between the phenotype and genotype of leukocyte in MERRF and MELASpatients. And the percentages of mutant mtDNA were similarly high in both clinically affected and unaffected tissues in 2 MERRF, 2 MELAS, and 1 MERRF/MELAS overlap syndrome patients. Single muscle fiber analysis, however, revealed that the proportion of mutant mtDNA was significantly higher in ragged-red fibers than in non-ragged-red fibers. | |||||
| 書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 116, 号 12, p. 619-630, 発行日 2002-12 |
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| 出版者 | ||||||
| 出版者 | 新潟医学会 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 00290440 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AN00182415 | |||||
| 著者版フラグ | ||||||
| 値 | publisher | |||||
