【摘要】 目的 基于外周血线粒体DNA-TLR9信号通路探讨视神经脊髓炎谱系疾病中线粒体DNA(mtDNA)和细胞因子的功能作用及其影响机制。方法 选取2020年12月-2023年12月就诊于本院的20例视神经脊髓炎谱系疾病患者为病例组，并选取同期性别与年龄相似的正常体检的健康儿童20例为对照组。采用化学发光免疫分析法(CBA法)测定病例组患者血清及脑脊液中水通道蛋白4抗体(AQP4-Ab)和髓鞘少突胶质细胞糖蛋白抗体(MOG-Ab)的表达。利用酶联免疫吸附试验(ELISA)对比两组血清中白细胞介素-6(IL-6)、白细胞介素-1(IL-1)、白细胞介素-1β(IL-1β)、肿瘤坏死因子-α(TNF-α)的水平。使用线粒体DNA抽提工具包检测外周血线粒体DNA拷贝数，并对两组进行比较。结果 病例组中外周血线粒体DNA拷贝数(0.80±0.02)显著高于对照组(0.78±0.02),差异有统计学意义(t=3.614,P<0.01)。与对照组比较，病例组中IL-6及IL-1β水平有所升高，但差异无统计学意义(P>0.05);与对照组比较，病例组中IL-1及TNF-α水平明显升高，差异有统计学意义(P<0.05)。与AQP4-IgG阴性组比较，AQP4-IgG阳性组TNF-α水平降低，扩展残疾状况量表(EDSS)评分增高，差异有统计学意义(P<0.05);与AQP4-IgG阴性组比较，AQP4-IgG阳性组IL-6、IL-1β、mtDNA降低，IL-1升高，但差异无统计学意义(P>0.05)。结论 视神经脊髓炎谱系疾病的发病机制可能涉及线粒体DNA和细胞因子，这些因子通过天然免疫反应的路径可能对疾病进程产生影响。更多还原

【Abstract】 Objective To explore the functional roles of mitochondrial DNA and cytokines in neuromyelitis optica spectrum disorders(NMOSD) based on the mitochondrial DNA-TLR9 signaling pathway and their impact mechanisms. Methods A total of 20 children with neuromyelitis spectrum diseases admitted to the hospital from December 2020 to December 2023 were selected as case group, and 20 healthy children with similar gender and age in normal physical examination during the same period were selected as control group. The expression of aquaporin-4 antibody(AQP4-Ab) and myelin oligodendrocyte glycoprotein antibody(MOG-Ab) in serum and cerebrospinal fluid of the patients in the case group was determined by chemiluminescence immunoassay(CBA). The serum levels of interleukin-6(IL-6), interleukin-1(IL-1), interleukin-1β(IL-1β) and tumor necrosis factor-α(TNF-α) in the 2 groups were compared by enzyme-linked immunosorbent assay(ELISA). A mitochondrial DNA extraction kit was used to detect the copy number of mitochondrial DNA, and a comparison was made between the 2 groups. Results The copy number of mitochondrial DNA in the case group(0.80±0.02) was significantly higher than that in the control group(0.78±0.02), with a statistically significant difference(t=3.614, P<0.01). Compared with control group, IL-6 and IL-1β levels in case group were increased, but the difference was not statistically significant(P>0.05). Compared with control group, IL-1 and TNF-α levels in case group were significantly increased, with a statistically significant difference(P<0.05). Compared with AQP4-IgG negative group, the TNF-α level in AQP4-IgG positive group was decreased, and the extended disability status scale(EDSS) score was increased, with a statistically significant difference(P<0.05). Compared with AQP4-IgG negative group, IL-6, IL-1β and mtDNA were decreased and IL-1 was increased in AQP4-IgG positive group, but the difference was not statistically significant(P>0.05). Conclusion The pathogenesis of neuromyelitis optica spectrum disorders may involve mitochondrial DNA and cytokines, which may affect the disease progression through the pathways of innate immune response.更多还原