UMR 1253, iBraiN, Université de Tours, Inserm, 37000 Tours, France.
UTTIL, CHRU de Tours, 37000 Tours, France.
Int J Mol Sci. 2024 Aug 8;25(16):8664. doi: 10.3390/ijms25168664.
Post-translational modifications (PTMs) affecting proteins during or after their synthesis play a crucial role in their localization and function. The modification of these PTMs under pathophysiological conditions, i.e., their appearance, disappearance, or variation in quantity caused by a pathological environment or a mutation, corresponds to post-translational variants (PTVs). These PTVs can be directly or indirectly involved in the pathophysiology of diseases. Here, we present the PTMs and PTVs of four major amyotrophic lateral sclerosis (ALS) proteins, SOD1, TDP-43, FUS, and TBK1. These modifications involve acetylation, phosphorylation, methylation, ubiquitination, SUMOylation, and enzymatic cleavage. We list the PTM positions known to be mutated in ALS patients and discuss the roles of PTVs in the pathophysiological processes of ALS. In-depth knowledge of the PTMs and PTVs of ALS proteins is needed to better understand their role in the disease. We believe it is also crucial for developing new therapies that may be more effective in ALS.
在蛋白质合成过程中或之后影响蛋白质的翻译后修饰 (PTMs) 在其定位和功能中起着至关重要的作用。这些 PTMs 在病理生理条件下的修饰,即在病理环境或突变引起的数量的出现、消失或变化,对应于翻译后变体 (PTV)。这些 PTV 可以直接或间接地参与疾病的病理生理学。在这里,我们介绍了四种主要的肌萎缩侧索硬化症 (ALS) 蛋白,SOD1、TDP-43、FUS 和 TBK1 的 PTM 和 PTV。这些修饰涉及乙酰化、磷酸化、甲基化、泛素化、SUMO 化和酶切。我们列出了已知在 ALS 患者中发生突变的 PTM 位置,并讨论了 PTV 在 ALS 病理生理过程中的作用。深入了解 ALS 蛋白的 PTM 和 PTV 对于更好地理解它们在疾病中的作用是必要的。我们相信,对于开发可能对 ALS 更有效的新疗法也至关重要。