Abnormal membranerepair as a new concept for muscular dystrophy and search for new disease genes

膜修复异常作为肌营养不良症的新概念及寻找新的疾病基因

• 批准号: 23659454
• 负责人: KANAGAWA Motoi
• 金额: $ 2.33万
• 依托单位: Kobe University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23659454/
• 关键词: 細胞・組織; 筋ジストロフィー; 膜修復; ジスフェルリン; 神経分子病態学; 細胞膜修復

Anti-dysferlin antibodies and a method to isolate dysferlin-containing vesicle were established, which enables us to analyze components of the dysferlin-containing membranes. Proteins up-regulated correlatively to disease severity of muscular dystrophy were identified. Analyses of double mutant mice of dysferlin and other muscular dystrophy mice showed that dysferlin-deficiency led more severe muscular dystrophic phenotype. These results will contribute to deeper understanding of muscular dystrophy pathogenesis.

建立了抗dysferlin抗体和分离dysferlin囊泡的方法，从而使我们能够分析dysferlin膜的成分。确定了与肌营养不良症疾病严重程度相关的蛋白质上调。对dysferlin双突变小鼠和其他肌营养不良小鼠的分析表明，dysferlin缺陷导致更严重的肌营养不良表型。这些结果将有助于更深入地了解肌营养不良症的发病机制。

项目成果

The dysferlin-mediated membrane repair system contributes to maintenance of skeletal muscle cell viability in mouse models of muscular dystrophy

Dysferlin 介导的膜修复系统有助于维持肌营养不良小鼠模型中的骨骼肌细胞活力

• 发表时间: 2011
• 作者: Jutabha P;Anzai N;Wempe MF;Wakui S;Endou H;Sakurai H;戸田 達史
• 通讯作者: 戸田 達史