JCI Insight. 2023 May 22;8(10):e164768. doi: 10.1172/jci.insight.164768.
Muscular dystrophies make up a group of genetic neuromuscular disorders that involve severe muscle wasting. TGF-β-activated kinase 1 (TAK1) is an important signaling protein that regulates cell survival, growth, and inflammation. TAK1 has been recently found to promote myofiber growth in the skeletal muscle of adult mice. However, the role of TAK1 in muscle diseases remains poorly understood. In the present study, we have investigated how TAK1 affects the progression of dystrophic phenotype in the mdx mouse model of Duchenne muscular dystrophy (DMD). TAK1 is highly activated in the dystrophic muscle of mdx mice during the peak necrotic phase. While targeted inducible inactivation of TAK1 inhibits myofiber injury in young mdx mice, it results in reduced muscle mass and contractile function. TAK1 inactivation also causes loss of muscle mass in adult mdx mice. By contrast, forced activation of TAK1 through overexpression of TAK1 and TAB1 induces myofiber growth without having any deleterious effect on muscle histopathology. Collectively, our results suggest that TAK1 is a positive regulator of skeletal muscle mass and that targeted regulation of TAK1 can suppress myonecrosis and ameliorate disease progression in DMD.
肌肉萎缩症是一组遗传性神经肌肉疾病,涉及严重的肌肉萎缩。TGF-β 激活激酶 1(TAK1)是一种重要的信号蛋白,可调节细胞存活、生长和炎症。最近发现,TAK1 可促进成年小鼠骨骼肌中的肌纤维生长。然而,TAK1 在肌肉疾病中的作用仍知之甚少。在本研究中,我们研究了 TAK1 如何影响 Duchenne 型肌肉萎缩症(DMD)mdx 小鼠模型中进行性肌营养不良表型的进展。在 mdx 小鼠的坏死高峰期,TAK1 在其病变肌肉中高度激活。虽然靶向诱导的 TAK1 失活可抑制年轻 mdx 小鼠的肌纤维损伤,但会导致肌肉质量和收缩功能降低。TAK1 失活也会导致成年 mdx 小鼠的肌肉质量损失。相比之下,通过过表达 TAK1 和 TAB1 强制激活 TAK1 可诱导肌纤维生长,而对肌肉组织病理学没有任何不良影响。总之,我们的结果表明 TAK1 是骨骼肌质量的正调节剂,靶向调节 TAK1 可抑制 DMD 中的肌坏死并改善疾病进展。