PDF(Pubmed)
Abstract：
Spinal Muscular Atrophy (SMA), a neurodegenerative disorder, extends its impact beyond the nervous system. The central protein implicated in SMA, Survival Motor Neuron (SMN) protein, is ubiquitously expressed and functions in fundamental processes such as alternative splicing, translation, cytoskeletal dynamics and signaling. These processes are relevant for all cellular systems, including cells of the immune system such as macrophages. Macrophages are capable of modulating their splicing, cytoskeleton and expression profile in order to fulfil their role in tissue homeostasis and defense. However, less is known about impairment or dysfunction of macrophages lacking SMN and the subsequent impact on the immune system of SMA patients. We aimed to review the potential overlaps between SMN functions and macrophage mechanisms highlighting the need for future research, as well as the current state of research addressing the role of macrophages in SMA.
摘要：
脊髓性肌萎缩症(SMA),神经退行性疾病,将其影响扩展到神经系统之外。与SMA有关的中枢蛋白，存活运动神经元(SMN)蛋白,普遍存在，并在基本过程中起作用，如可变剪接，翻译,细胞骨架动力学和信号传导。这些过程与所有蜂窝系统相关，包括巨噬细胞等免疫系统细胞。巨噬细胞能够调节它们的剪接，细胞骨架和表达谱，以履行其在组织稳态和防御中的作用。然而,对缺乏SMN的巨噬细胞的损伤或功能障碍以及随后对SMA患者免疫系统的影响知之甚少。我们旨在回顾SMN功能和巨噬细胞机制之间的潜在重叠，突出未来研究的必要性。以及目前研究巨噬细胞在SMA中的作用。
