Abstract—Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with steadily progressing death of motor neurons in the brain and spinal cord. The disease is incurable and results in the patient’s death within 3–5 years on average. The mechanisms of initiation, progression, and spread of the pathological process remain unclear. It seems that inflammatory reactions may be important for disease progression but this is not certain. We performed multiplex analysis of the expression of neuroinflammatory genes in mononuclear cells of peripheral blood from patients with different rates of ALS progression (n = 22) and compared these data with those observed in healthy volunteers. We found that the expression of 14 genes, specifically BAX, CLN3, PLEKHM1, AKT1, LAMP1, RAC2, VAV1, MPG, TFG, BRD2, CSK, MSN, GBA, and VIM, differed between the groups of patients and healthy volunteers (p < 0.05; q < 0.05). Genes associated with autophagia, apoptosis, adaptive immunity, and growth factor cascades prevail among these genes. We did not find any substantial differences in gene expression between patients with rapid and slow ALS progression. We revealed a subgroup of patients who exhibited significantly different expression of 208 or 262 genes compared to other ALS patients or healthy volunteers, respectively (p < 0.05; q < 0.05). Our data show the importance of not only central but also peripheral inflammatory reactions in the development of the pathological process associated with ALS.

摘要：肌萎缩侧索硬化症 (ALS) 是一种神经退行性疾病，大脑和脊髓中的运动神经元逐渐死亡。该病无法治愈，平均在3-5年内导致患者死亡。病理过程的发生、进展和扩散机制尚不清楚。炎症反应似乎对疾病进展很重要，但这并不确定。我们对来自不同 ALS 进展率的患者 ( n = 22)的外周血单核细胞中神经炎症基因的表达进行了多重分析，并将这些数据与在健康志愿者中观察到的数据进行了比较。我们发现 14 个基因的表达，特别是BAX、CLN3，PLEKHM1，AKT1，LAMP1，RAC2，VAV1，MPG，TFG，BRD2，CSK，MSN，GBA和VIM，患者组和健康志愿者之间差异（p <0.05; q< 0.05)。与自噬、细胞凋亡、适应性免疫和生长因子级联相关的基因在这些基因中占主导地位。我们没有发现快速和缓慢 ALS 进展患者之间基因表达的任何实质性差异。我们揭示了一个患者亚组，与其他 ALS 患者或健康志愿者相比，208 或 262 基因的表达分别显着不同（p < 0.05；q < 0.05）。我们的数据表明，在与 ALS 相关的病理过程的发展中，不仅中枢炎症反应而且外周炎症反应也很重要。