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

建立了抗异铁蛋白抗体和分离含异铁蛋白囊泡的方法，使我们能够分析含异铁蛋白膜的成分。确定了与肌肉萎缩症疾病严重程度相关的上调蛋白。对异铁素双突变小鼠和其他肌营养不良小鼠的分析表明，异铁素缺乏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的发病机制。

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.