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泛素-蛋白酶体系统与自噬在与肌营养不良蛋白-糖蛋白复合物相关的肌营养不良症中的失调

Misregulation of the Ubiquitin-Proteasome System and Autophagy in Muscular Dystrophies Associated with the Dystrophin-Glycoprotein Complex.

作者信息

Bozzi Manuela, Sciandra Francesca, Bigotti Maria Giulia, Brancaccio Andrea

机构信息

Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Sezione di Biochimica e Biochimica Clinica, Università Cattolica del Sacro Cuore, Largo F. Vito 1, 00168 Roma, Italy.

Istituto di Scienze e Tecnologie Chimiche "Giulio Natta"-SCITEC (CNR), Largo F. Vito, 00168 Roma, Italy.

出版信息

Cells. 2025 May 15;14(10):721. doi: 10.3390/cells14100721.

Abstract

The stability of the sarcolemma is severely impaired in a series of genetic neuromuscular diseases defined as muscular dystrophies. These are characterized by the centralization of skeletal muscle syncytial nuclei, the replacement of muscle fibers with fibrotic tissue, the release of inflammatory cytokines, and the disruption of muscle protein homeostasis, ultimately leading to necrosis and loss of muscle functionality. A specific subgroup of muscular dystrophies is associated with genetic defects in components of the dystrophin-glycoprotein complex (DGC), which plays a crucial role in linking the cytosol to the skeletal muscle basement membrane. In these cases, dystrophin-associated proteins fail to correctly localize to the sarcolemma, resulting in dystrophy characterized by an uncontrolled increase in protein degradation, which can ultimately lead to cell death. In this review, we explore the role of intracellular degradative pathways-primarily the ubiquitin-proteasome and autophagy-lysosome systems-in the progression of DGC-linked muscular dystrophies. The DGC acts as a hub for numerous signaling pathways that regulate various cellular functions, including protein homeostasis. We examine whether the loss of structural stability within the DGC affects key signaling pathways that modulate protein recycling, with a particular emphasis on autophagy.

摘要

在一系列被定义为肌营养不良症的遗传性神经肌肉疾病中,肌膜的稳定性受到严重损害。这些疾病的特征包括骨骼肌多核体细胞核的集中化、肌纤维被纤维组织替代、炎性细胞因子的释放以及肌肉蛋白质稳态的破坏,最终导致坏死和肌肉功能丧失。肌营养不良症的一个特定亚组与肌营养不良蛋白 - 糖蛋白复合物(DGC)成分的基因缺陷有关,该复合物在将细胞溶质与骨骼肌基底膜连接中起关键作用。在这些情况下,与肌营养不良蛋白相关的蛋白质无法正确定位于肌膜,导致以蛋白质降解不受控制增加为特征的营养不良,最终可导致细胞死亡。在本综述中,我们探讨细胞内降解途径——主要是泛素 - 蛋白酶体和自噬 - 溶酶体系统——在与DGC相关的肌营养不良症进展中的作用。DGC作为众多调节各种细胞功能(包括蛋白质稳态)的信号通路的枢纽。我们研究DGC内结构稳定性的丧失是否会影响调节蛋白质循环利用的关键信号通路,尤其着重于自噬。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cfe/12109756/a1fcad5a4fdd/cells-14-00721-g001.jpg

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