Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
Mol Cell. 2019 May 16;74(4):742-757.e8. doi: 10.1016/j.molcel.2019.03.027. Epub 2019 Apr 9.
Disturbances in autophagy and stress granule dynamics have been implicated as potential mechanisms underlying inclusion body myopathy (IBM) and related disorders. Yet the roles of core autophagy proteins in IBM and stress granule dynamics remain poorly characterized. Here, we demonstrate that disrupted expression of the core autophagy proteins ULK1 and ULK2 in mice causes a vacuolar myopathy with ubiquitin and TDP-43-positive inclusions; this myopathy is similar to that caused by VCP/p97 mutations, the most common cause of familial IBM. Mechanistically, we show that ULK1/2 localize to stress granules and phosphorylate VCP, thereby increasing VCP's activity and ability to disassemble stress granules. These data suggest that VCP dysregulation and defective stress granule disassembly contribute to IBM-like disease in Ulk1/2-deficient mice. In addition, stress granule disassembly is accelerated by an ULK1/2 agonist, suggesting ULK1/2 as targets for exploiting the higher-order regulation of stress granules for therapeutic intervention of IBM and related disorders.
自噬和应激颗粒动态的紊乱被认为是包涵体肌病 (IBM) 和相关疾病的潜在机制。然而,核心自噬蛋白在 IBM 和应激颗粒动态中的作用仍未得到充分描述。在这里,我们证明了在小鼠中核心自噬蛋白 ULK1 和 ULK2 的表达失调会导致空泡性肌病,伴有泛素和 TDP-43 阳性包涵体;这种肌病类似于 VCP/p97 突变引起的肌病,VCP/p97 突变是家族性 IBM 的最常见原因。从机制上讲,我们表明 ULK1/2 定位于应激颗粒并磷酸化 VCP,从而增加 VCP 的活性和分解应激颗粒的能力。这些数据表明,VCP 失调和应激颗粒解体缺陷导致 Ulk1/2 缺陷型小鼠出现 IBM 样疾病。此外,应激颗粒的解体被 ULK1/2 激动剂加速,这表明 ULK1/2 是利用应激颗粒的高级别调节来治疗 IBM 和相关疾病的靶点。