Department of Kinesiology, Faculty of Science, McMaster University, Hamilton, Ontario, Canada.
Trends Mol Med. 2023 Jul;29(7):512-529. doi: 10.1016/j.molmed.2023.03.008. Epub 2023 Apr 19.
Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and spinal muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children and adults. Central to a healthy neuromuscular system are the processes that govern mitochondrial turnover and dynamics, which are regulated by AMP-activated protein kinase (AMPK). Here, we survey mitochondrial stresses that are common between, as well as unique to, DMD, DM1, and SMA, and which may serve as potential therapeutic targets to mitigate neuromuscular disease. We also highlight recent advances that leverage a mutation-agnostic strategy featuring physiological or pharmacological AMPK activation to enhance mitochondrial health in these conditions, as well as identify outstanding questions and opportunities for future pursuit.
杜氏肌营养不良症(DMD)、肌强直性肌营养不良症 1 型(DM1)和脊髓性肌萎缩症(SMA)是儿童和成人中最常见的神经肌肉疾病(NMDs)。健康的神经肌肉系统的核心是控制线粒体周转和动态的过程,这些过程受 AMP 激活的蛋白激酶(AMPK)调节。在这里,我们调查了 DMD、DM1 和 SMA 之间共有的以及特有的线粒体应激,这些应激可能作为减轻神经肌肉疾病的潜在治疗靶点。我们还强调了最近的进展,这些进展利用了一种针对突变的策略,通过生理或药理学 AMPK 激活来增强这些情况下的线粒体健康,并确定了未来研究的悬而未决的问题和机会。