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
• Author/Editor: 浦田, 結嘉
• Author Heading: 浦田, 結嘉 ウラタ, ユカ
• Publication, Distribution, etc.: Lippincott Williams and Wilkins
• Publication Date: 2019
• Publication Date (W3CDTF): 2019
• Alternative Title: Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein
• Periodical title: Neurology: Genetics
• No. or year of volume/issue: 5 3
• Volume: 5
• Issue: 3
• Degree grantor/type: 鹿児島大学
• Date Granted: 2019-09-17
• Dissertation Number: 甲総研第519号
• Degree Type: 博士(医学); Doctor of Philosophy in Medical Science
• Text Language Code: eng
• 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.
• Format (IMT): application/pdf
• Access Restrictions: インターネット公開
• Rights (production): © The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the 2019 American Academy of Neurology.
• Related Material: URI; https://ng.neurology.org/
• Related Material (DOI): 10.1212/NXG.0000000000000328
• Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• Original Data Provider (Database): 鹿児島大学 : 鹿児島大学リポジトリ

Table of Contents

Result_Urata_Yuka_isk_519 other

Comments_Urata_Yuka_isk_519 other

Diss_浦田_結嘉_ISK519_2019 fulltext

Abstract_浦田_結嘉_4514800025_2019 abstract