McLeod症候群のXK新規変異とXKタンパクとchoreinの相互作用

• Material Type: 博士論文
• Title: McLeod症候群のXK新規変異とXKタンパクとchoreinの相互作用
• Volume: 5 3
• Author/Editor: 浦田, 結嘉
• Author Heading: 浦田, 結嘉
• Publication, Distribution, etc.: Lippincott Williams and Wilkins
• Publication Date: 2019; 5 3
• Publication Date (W3CDTF): 2019
• Alternative Title: Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
• Periodical title: Neurology: Genetics
• Degree grantor/type: 鹿児島大学
• Date Granted: 2019-09-17
• Date Granted (W3CDTF): 2019-09-17
• Dissertation Number: 甲総研第519号
• Degree Type: 博士(医学); Doctor of Philosophy in Medical Science
• Conferring No. (Dissertation): 甲総研第519号
• Text Language Code: eng
• NDC: 490
• Target Audience: 一般
• Note (General): 博士論文全文, 博士論文要旨, 最終試験結果の要旨, 論文審査の要旨; Objective: To identify XK pathologic mutations in 6 patients with suspected McLeod syndrome (MLS) and a possible interaction between the chorea-acanthocytosis (ChAc)- and MLS-responsible proteins: chorein and XK protein.Methods: Erythrocyte membrane proteins from patients with suspected MLS and patients with ChAc, ChAc mutant carriers, and normal controls were analyzed by XK and chorein immunoblotting. We performed mutation analysis and XK immunoblotting to molecularly diagnose the patients with suspected MLS. Lysates of cultured cells were co-immunoprecipitated with anti-XK and anti-chorein antibodies.Results: All suspected MLS cases were molecularly diagnosed with MLS, and novel mutations were identified. The average onset age was 46.8 ± 8 years, which was older than that of the patients with ChAc. The immunoblot analysis revealed remarkably reduced chorein immunoreactivity in all patients with MLS. The immunoprecipitation analysis indicated a direct or indirect chorein-XK interaction.Conclusions: In this study, XK pathogenic mutations were identified in all 6 MLS cases, including novel mutations. Chorein immunoreactions were significantly reduced in MLS erythrocyte membranes. In addition, we demonstrated a possible interaction between the chorein and XK protein via molecular analysis. The reduction in chorein expression is similar to that between Kell antigens and XK protein, although the chorein-XK interaction is a possibly noncovalent binding unlike the covalent Kell-XK complex. Our results suggest that reduced chorein levels following lack of XK protein are possibly associated with molecular pathogenesis in MLS.
• DOI: info:doi/10.1212/NXG.0000000000000328; https://doi.org/info:doi/10.1212/NXG.0000000000000328
• Persistent ID (NDL): info:ndljp/pid/11538815; https://dl.ndl.go.jp/pid/11538815
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2020-09-07T06:04:08+09:00
• Date Created (W3CDTF): 2019-10-08
• Format (IMT): PDF; application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Original Material (URI): https://ng.neurology.org/
• Periodical Title (URI): http://hdl.handle.net/10232/00030799
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

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