Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, SI-1000 Ljubljana, Slovenia.
Genes (Basel). 2023 Jan 27;14(2):325. doi: 10.3390/genes14020325.
Amyotrophic lateral sclerosis (ALS) is described as a fatal and rapidly progressive neurodegenerative disorder caused by the degeneration of upper motor neurons in the primary motor cortex and lower motor neurons of the brainstem and spinal cord. Due to ALS's slowly progressive characteristic, which is often accompanied by other neurological comorbidities, its diagnosis remains challenging. Perturbations in vesicle-mediated transport and autophagy as well as cell-autonomous disease initiation in glutamatergic neurons have been revealed in ALS. The use of extracellular vesicles (EVs) may be key in accessing pathologically relevant tissues for ALS, as EVs can cross the blood-brain barrier and be isolated from the blood. The number and content of EVs may provide indications of the disease pathogenesis, its stage, and prognosis. In this review, we collected a recent study aiming at the identification of EVs as a biomarker of ALS with respect to the size, quantity, and content of EVs in the biological fluids of patients compared to controls.
肌萎缩侧索硬化症（ALS）被描述为一种致命的、快速进展的神经退行性疾病，由大脑皮质初级运动神经元和脑干及脊髓的下运动神经元变性引起。由于 ALS 的进展缓慢的特点，常伴有其他神经共病，其诊断仍然具有挑战性。在 ALS 中，囊泡介导的运输和自噬的紊乱以及谷氨酸能神经元中的细胞自主疾病起始已被揭示。细胞外囊泡（EVs）的使用可能是ALS 进入病理相关组织的关键，因为 EVs 可以穿过血脑屏障并从血液中分离出来。EVs 的数量和内容可能为疾病发病机制、其阶段和预后提供指示。在这篇综述中，我们收集了一项最近的研究，该研究旨在确定 EVs 作为 ALS 的生物标志物，比较了患者与对照组的生物体液中 EVs 的大小、数量和内容。
