Chong Pin Fee, Kajiwara Kenta, Ueno Yuji, Akamine Satoshi, Torisu Hiroyuki, Kira Ryutaro, Ohga Shouichi, Sakai Yasunari
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, 813-0017, Japan.
Biochem Biophys Rep. 2025 Sep 3;44:102233. doi: 10.1016/j.bbrep.2025.102233. eCollection 2025 Dec.
Myelin oligodendrocyte glycoprotein antibody-associated disorder (MOGAD) is a group of acquired demyelinating syndromes affecting the central nervous system. MOGAD-associated bioactive molecules remain elusive. A retrospective case-control study was performed to characterize the biochemical and immunological profiles of cerebrospinal fluid (CSF) in MOGAD. Thirteen patients with MOGAD (onset age: 2-14 years, 6 females) and five patients with epilepsy, serving as controls, were enrolled. Liquid chromatography with tandem mass spectrometry was used for lipidomic and metabolomic analyses using CSF samples collected at disease onset (n = 5). The MS/MS system detected a total of 7527 molecules in lipidomic and 17,526 molecules in metabolomic analyses of CSF. Among them, 162 (0.02 %) lipophilic molecules were detected at levels that differed from those of controls. Among the 549 (0.03 %) hydrophilic molecules that were differentially presented, pyridoxine, ribitol, and isethionate levels were significantly lower in patients with MOGAD. Both lipidomic and metabolomic analyses, discriminated CSF samples of patients with MOGAD from controls using Uniform Manifold Approximation and Projection. In summary, CSF samples from children with MOGAD exhibit distinctive lipidomic and metabolomic profiles. These findings provide evidence for the diagnostic potential of CSF-based lipidomic and metabolomic analyses for childhood-onset MOGAD.
髓鞘少突胶质细胞糖蛋白抗体相关疾病（MOGAD）是一组影响中枢神经系统的获得性脱髓鞘综合征。与MOGAD相关的生物活性分子仍不清楚。进行了一项回顾性病例对照研究，以表征MOGAD患者脑脊液（CSF）的生化和免疫特征。纳入了13例MOGAD患者（发病年龄：2至14岁，6名女性）和5例癫痫患者作为对照。采用液相色谱串联质谱法，对疾病发作时采集的脑脊液样本（n = 5）进行脂质组学和代谢组学分析。MS/MS系统在脑脊液的脂质组学分析中总共检测到7527个分子，在代谢组学分析中检测到17526个分子。其中，检测到162个（0.02%）亲脂性分子的水平与对照组不同。在差异呈现的549个（0.03%）亲水性分子中，MOGAD患者的吡哆醇、核糖醇和羟乙磺酸盐水平显著较低。脂质组学和代谢组学分析均使用均匀流形逼近和投影法，将MOGAD患者的脑脊液样本与对照组区分开来。总之，MOGAD患儿的脑脊液样本呈现出独特的脂质组学和代谢组学特征。这些发现为基于脑脊液的脂质组学和代谢组学分析对儿童期发病的MOGAD的诊断潜力提供了证据。
