Duchenne muscular dystrophy (DMD) is an inherited fatal X-linked myogenic disorder with a prevalence of 1 in 3500 male live births. It affects voluntary muscles, and heart and breathing muscles. DMD is characterized by continuous degeneration and regeneration cycles resulting in extensive fibrosis and a progressive reduction in muscle mass. Since the identification of a reduction in dystrophin protein as the cause of this disorder, numerous innovative and experimental therapies, focusing on increasing the levels of dystrophin, have been proposed, but the clinical improvement has been unsatisfactory. Dystrophin forms the dystrophin-associated glycoprotein complex and its proteins have been studied as a promising novel therapeutic target to treat DMD. Among these proteins, cell surface glycosaminoglycans (GAGs) are found almost ubiquitously on the surface and in the extracellular matrix (ECM) of mammalian cells. These macromolecules interact with numerous ligands, including ECM constituents, adhesion molecules and growth factors that play a crucial role in muscle development and maintenance. In this article, we have reviewed in vitro, in vivo and clinical studies focused on the functional role of GAGs in the pathophysiology of DMD with the final aim of summarizing the state of the art of GAG dysregulation within the ECM in DMD and discussing future therapeutic perspectives.

中文翻译：

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蛋白聚糖和糖胺聚糖在杜兴氏肌营养不良症中的作用

Duchenne肌营养不良症（DMD）是一种遗传性的致命性X连锁肌源性疾病，在3500名男性活产婴儿中患病率为1。它会影响自愿性肌肉，心脏和呼吸肌。DMD的特征在于连续的变性和再生循环，导致广泛的纤维化和肌肉质量的逐渐减少。自从发现肌营养不良蛋白减少是造成这种疾病的原因以来，已经提出了许多创新的和实验性的疗法，重点是增加肌营养不良蛋白的水平，但是临床上的改善并不令人满意。肌营养不良蛋白形成与肌营养不良蛋白相关的糖蛋白复合物，其蛋白已被研究为治疗DMD的有希望的新型治疗靶标。在这些蛋白质中，细胞表面的糖胺聚糖（GAG）几乎普遍存在于哺乳动物细胞的表面和细胞外基质（ECM）中。这些大分子与众多配体相互作用，其中包括ECM成分，粘附分子和生长因子，它们在肌肉的发育和维持中起着至关重要的作用。在本文中，我们回顾了体外，体内和临床研究，重点研究了GAG在DMD病理生理中的功能，其最终目的是总结DMD ECM中GAG失调的技术水平并讨论未来的治疗方法观点。