Dysferlin is a sarcolemmal muscle protein associated with the processes of membrane repair, trafficking, and fusion of intracellular vesicles and muscle regeneration. Mutations in the DYSF gene cause clinically distinct forms of muscular dystrophies. The dysferlin-deficient SJL/J mouse model presents a reduction of 85% of the protein but shows mild weakness and discrete histopathological alterations. To study the effect of dysferlin deficiency in the muscle regenerative process, we used a model of electrical injury by electroporation to induce muscle degeneration/regeneration in the SJL/J mouse. The relative expression of the genes Pax7, MyoD, Myf5, and Myog was accompanied by the histopathological evaluation during muscle recovery at different time points after injury. We also investigated the effects of dysferlin deficiency in the expression of genes encoding FAM65B and HDAC6 proteins, recently described as forming a tricomplex with dysferlin at the beginning of myoblast differentiation. We observed an altered time course through the process of degeneration and regeneration in dysferlin-deficient mice, with remarkable regenerative capacity characterized by a faster and effective response in the first days after injury, as compared to the WT mice. Also, dysferlin deficiency seems to significantly alter the gene expression of Fam65b and Hdac6 during regeneration, since higher levels of expression of both genes were observed in dysferlin-deficient mice. These results need further attention to define their relevance in the disease mechanism.

中文翻译：

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与Fam65b和Hdac6在dysferlin缺陷型小鼠中的高表达有关的更快的再生。

dysferlin是一种肌膜肌蛋白，与膜修复，运输，细胞内囊泡融合和肌肉再生有关。DYSF基因的突变会导致肌营养不良的临床不同形式。dysferlin缺陷型SJL / J小鼠模型减少了85％的蛋白质，但显示轻度无力和离散的组织病理学改变。为了研究dysferlin缺乏在肌肉再生过程中的作用，我们使用了一种通过电穿孔引起的电损伤模型来诱导SJL / J小鼠的肌肉变性/再生。Pax7，MyoD，Myf5和Myog基因的相对表达在受伤后不同时间点的肌肉恢复过程中伴有组织病理学评估。我们还研究了dysferlin缺乏症对编码FAM65B和HDAC6蛋白质的基因表达的影响，最近发现该基因在成肌细胞分化开始时与dysferlin形成三复合体。我们观察到，在dysferlin缺陷型小鼠中，通过变性和再生过程改变了时间进程，与WT小鼠相比，具有显着的再生能力，其特征是在损伤后的头几天更快，更有效的反应。此外，dysferlin缺乏症似乎会显着改变Fam65b和Hdac6的基因表达在再生期间，由于在dysferlin缺陷型小鼠中观察到了两个基因的较高表达水平。这些结果需要进一步关注，以定义它们在疾病机制中的相关性。