Targeting fibrosis in Duchenne muscular dystrophy.
Targeting fibrosis in Duchenne muscular dystrophy.
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DOI：
10.1097/nen.0b013e3181e9a34b
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发表时间：
2010-08
影响因子：
3.2
通讯作者：
Lu H
中科院分区：
文献类型：
--
作者：
Zhou L;Lu H
Duchenne肌营养不良症(DMD)是最常见的遗传性肌肉疾病，每3,500名男婴中就有1名患病。这是一种X连锁隐性疾病，由Dystrophin基因缺陷引起。该病的特点是进行性四肢无力、呼吸和心脏衰竭以及过早死亡。纤维化是DMD患者肌肉活检的显著病理特征。它直接导致肌肉功能障碍，并导致致命的DMD表型。虽然基因疗法和细胞疗法最终可能为DMD提供治愈方法，但目前这种疾病是毁灭性的，没有有效的治疗方法。最近的研究表明，改善肌肉纤维化可能是治疗DMD的一种可行的方法。通过减少瘢痕的形成，抗纤维化治疗不仅可以改善肌肉功能，还可以增强肌肉再生，促进基因和干细胞植入。抗纤维化治疗可能成为未来治疗DMD的基因和细胞治疗的必要补充。因此，了解与Dstrophin缺乏相关的肌肉纤维化形成的细胞和分子机制是开发有效的DMD抗纤维化治疗的关键。
Duchenne muscular dystrophy (DMD) is the most common genetic muscle disease affecting 1 in 3,500 live male births. It is an X-linked recessive disease caused by a defective dystrophin gene. The disease is characterized by progressive limb weakness, respiratory and cardiac failure and premature death. Fibrosis is a prominent pathological feature of muscle biopsies from patients with DMD. It directly causes muscle dysfunction and contributes to the lethal DMD phenotype. Although gene therapy and cell therapy may ultimately provide a cure for DMD, currently the disease is devastating, with no effective therapies. Recent studies have demonstrated that ameliorating muscle fibrosis may represent a viable therapeutic approach for DMD. By reducing scar formation, antifibrotic therapies may not only improve muscle function but also enhance muscle regeneration and promote gene and stem cell engraftment. Antifibrotic therapy may serve as a necessary addition to gene and cell therapies to treat DMD in the future. Therefore, understanding cellular and molecular mechanisms underlying muscle fibrogenesis associated with dystrophin deficiency is key to the development of effective antifibrotic therapies for DMD.