Cordova Gonzalo, Negroni Elisa, Cabello-Verrugio Claudio, Mouly Vincent, Trollet Capucine
Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, Paris, France.
Laboratorio de Patologías Musculares, Fragilidad y Envejecimiento, Departamento de Ciencias Biológicas, Facultad de Ciencias Biológicas, Universidad Andres Bello, Santiago, Chile.
Front Genet. 2018 Apr 10;9:114. doi: 10.3389/fgene.2018.00114. eCollection 2018.
Duchene Muscular Dystrophy (DMD) is the most frequent muscular dystrophy and one of the most severe due to the absence of the dystrophin protein. Typical pathological features include muscle weakness, muscle wasting, degeneration, and inflammation. At advanced stages DMD muscles present exacerbated extracellular matrix and fat accumulation. Recent progress in therapeutic approaches has allowed new strategies to be investigated, including pharmacological, gene-based and cell-based therapies. Gene and cell-based therapies are still limited by poor targeting and low efficiency in fibrotic dystrophic muscle, therefore it is increasingly evident that future treatments will have to include "combined therapies" to reach maximal efficiency. The scope of this mini-review is to provide an overview of the current literature on such combined therapies for DMD. By "combined therapies" we mean those that include both a therapy to correct the genetic defect and an additional one to address one of the secondary pathological features of the disease. In this mini-review, we will not provide a comprehensive view of the literature on therapies for DMD, since many such reviews already exist, but we will focus on the characteristics, efficiency, and potential of such combined therapeutic strategies that have been described so far for DMD.
杜氏肌营养不良症（DMD）是最常见的肌营养不良症之一，也是由于缺乏抗肌萎缩蛋白而最为严重的病症之一。典型的病理特征包括肌肉无力、肌肉萎缩、变性和炎症。在疾病晚期，DMD肌肉会出现细胞外基质加剧和脂肪堆积的情况。治疗方法的最新进展使得新的策略得以研究，包括药物治疗、基因治疗和细胞治疗。基因治疗和细胞治疗仍然受到靶向性差和在纤维化营养不良肌肉中效率低的限制，因此越来越明显的是，未来的治疗将必须包括“联合疗法”以达到最大效率。本综述的范围是概述目前关于DMD联合疗法的文献。通过“联合疗法”，我们指的是那些既包括纠正基因缺陷的疗法，又包括解决该疾病继发病理特征之一的额外疗法。在本综述中，我们不会对DMD治疗的文献进行全面综述，因为已经有很多这样的综述了，但我们将关注迄今为止针对DMD所描述的这种联合治疗策略的特点、效率和潜力。
