Department of Biosciences, Università degli Studi di Milano, Via Celoria 26, 20133, Milan, Italy.
Department of Biosciences and Territory, University of Molise, Contrada Fonte Lappone, Pesche (Is), Italy.
Nat Commun. 2020 Nov 30;11(1):6108. doi: 10.1038/s41467-020-19839-x.
Duchenne muscular dystrophy (DMD) affects 1 in 3500 live male births. To date, there is no effective cure for DMD, and the identification of novel molecular targets involved in disease progression is important to design more effective treatments and therapies to alleviate DMD symptoms. Here, we show that protein levels of the Bromodomain and extra-terminal domain (BET) protein BRD4 are significantly increased in the muscle of the mouse model of DMD, the mdx mouse, and that pharmacological inhibition of the BET proteins has a beneficial outcome, tempering oxidative stress and muscle damage. Alterations in reactive oxygen species (ROS) metabolism are an early event in DMD onset and they are tightly linked to inflammation, fibrosis, and necrosis in skeletal muscle. By restoring ROS metabolism, BET inhibition ameliorates these hallmarks of the dystrophic muscle, translating to a beneficial effect on muscle function. BRD4 direct association to chromatin regulatory regions of the NADPH oxidase subunits increases in the mdx muscle and JQ1 administration reduces BRD4 and BRD2 recruitment at these regions. JQ1 treatment reduces NADPH subunit transcript levels in mdx muscles, isolated myofibers and DMD immortalized myoblasts. Our data highlight novel functions of the BET proteins in dystrophic skeletal muscle and suggest that BET inhibitors may ameliorate the pathophysiology of DMD.
杜氏肌营养不良症(DMD)影响每 3500 名活产男婴中的 1 名。迄今为止,DMD 尚无有效治疗方法,确定参与疾病进展的新型分子靶标对于设计更有效的治疗和疗法以减轻 DMD 症状非常重要。在这里,我们显示 BRD4 蛋白水平在 DMD 小鼠模型 mdx 肌肉中显着增加,并且 BET 蛋白的药理学抑制具有有益的结果,可缓解氧化应激和肌肉损伤。活性氧(ROS)代谢的改变是 DMD 发病的早期事件,与骨骼肌中的炎症、纤维化和坏死密切相关。通过恢复 ROS 代谢,BET 抑制可改善这些营养不良肌肉的特征,从而对肌肉功能产生有益的影响。BRD4 直接与 NADPH 氧化酶亚基的染色质调节区域结合,在 mdx 肌肉中增加,并且 JQ1 给药可减少这些区域的 BRD4 和 BRD2 募集。JQ1 处理可降低 mdx 肌肉、分离的肌纤维和 DMD 永生化成肌细胞中 NADPH 亚基的转录水平。我们的数据强调了 BET 蛋白在营养不良骨骼肌中的新功能,并表明 BET 抑制剂可能改善 DMD 的病理生理学。