Departments of Molecular Biology, Internal Medicine, and Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9148, USA.
Proc Natl Acad Sci U S A. 2012 Jan 31;109(5):1649-54. doi: 10.1073/pnas.1121159109. Epub 2012 Jan 17.
Maintenance of skeletal muscle structure and function requires efficient and precise metabolic control. Autophagy plays a key role in metabolic homeostasis of diverse tissues by recycling cellular constituents, particularly under conditions of caloric restriction, thereby normalizing cellular metabolism. Here we show that histone deacetylases (HDACs) 1 and 2 control skeletal muscle homeostasis and autophagy flux in mice. Skeletal muscle-specific deletion of both HDAC1 and HDAC2 results in perinatal lethality of a subset of mice, accompanied by mitochondrial abnormalities and sarcomere degeneration. Mutant mice that survive the first day of life develop a progressive myopathy characterized by muscle degeneration and regeneration, and abnormal metabolism resulting from a blockade to autophagy. HDAC1 and HDAC2 regulate skeletal muscle autophagy by mediating the induction of autophagic gene expression and the formation of autophagosomes, such that myofibers of mice lacking these HDACs accumulate toxic autophagic intermediates. Strikingly, feeding HDAC1/2 mutant mice a high-fat diet from the weaning age releases the block in autophagy and prevents myopathy in adult mice. These findings reveal an unprecedented and essential role for HDAC1 and HDAC2 in maintenance of skeletal muscle structure and function and show that, at least in some pathological conditions, myopathy may be mitigated by dietary modifications.
维持骨骼肌结构和功能需要高效和精确的代谢控制。自噬通过回收细胞成分在不同组织的代谢稳态中发挥关键作用,特别是在热量限制的情况下,从而使细胞代谢正常化。在这里,我们表明组蛋白去乙酰化酶 (HDAC) 1 和 2 控制着小鼠骨骼肌的稳态和自噬流。HDAC1 和 HDAC2 的骨骼肌特异性缺失导致一部分小鼠在围产期死亡,伴有线粒体异常和肌节变性。在生命的第一天幸存下来的突变小鼠会发展出一种进行性肌病,其特征是肌肉退化和再生,以及由于自噬受阻而导致的异常代谢。HDAC1 和 HDAC2 通过介导自噬基因表达的诱导和自噬体的形成来调节骨骼肌自噬,从而导致缺乏这些 HDAC 的肌纤维积累有毒的自噬中间产物。引人注目的是,从断奶期开始用高脂肪饮食喂养 HDAC1/2 突变小鼠可释放自噬阻断,并防止成年小鼠发生肌病。这些发现揭示了 HDAC1 和 HDAC2 在维持骨骼肌结构和功能方面的前所未有的重要作用,并表明,至少在某些病理条件下,肌病可以通过饮食改变来缓解。