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Abstract：
Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc in the muscular fibers. MFMs share common histological characteristics including progressive disorganization of the interfibrillar network and protein aggregation. Currently no treatment is available. In this review, we describe first clinical symptoms associated with mutations of the six genes (DES, CRYAB, MYOT, ZASP, FLNC and BAG3) primary involved in MFM and defining the origin of this pathology. As mechanisms determining the aetiology of the disease remain unclear yet, several research teams have developed animal models from invertebrates to mammalians species. Thus we describe here these different models that often recapitulate human clinical symptoms. Therefore they are very useful for deeper studies to understand early molecular and progressive mechanisms determining the pathology. Finally in the last part, we emphasize on the potential therapeutic approaches for MFM that could be conducted in the future. In conclusion, this review offers a link from patients to future therapy through the use of MFMs animal models.
摘要：
肌原纤维肌病（MFM）是肌肉疾病，涉及在结构中起作用的蛋白质，维持过程和蛋白质质量控制机制与肌纤维中的Z-盘密切相关。MFM具有共同的组织学特征，包括纤维间网络的进行性解体和蛋白质聚集。目前没有可用的治疗方法。在这次审查中,我们描述了与六个基因突变相关的第一个临床症状(DES，CRYAB,MYOT,ZASP,FLNC和BAG3）主要参与MFM并定义了这种病理的起源。由于确定该疾病病因的机制尚不清楚，几个研究小组开发了从无脊椎动物到哺乳动物物种的动物模型。因此，我们在这里描述了这些通常概括人类临床症状的不同模型。因此，它们对于深入研究以了解确定病理的早期分子和渐进机制非常有用。最后在最后一部分，我们强调了未来可能进行的MFM的潜在治疗方法.总之,这篇综述通过使用MFMs动物模型提供了从患者到未来治疗的联系.
