Nontarget metabolomics profiling of neuromyelitis optica spectrum disorder

To investigate the characteristic of neuromyelitis optica spectrum disorder (NMOSD) in plasma and cerebrospinal fluid, UHPLC-MS was used to identify metabolites by metabolite extraction and on-machine detection. Multivariate analysis methods were used to complete differential metabolite screening and metabolic pathway analysis. The content of eight substances, such as tryptophan and l-glutamic acid in the plasma of NMOSD patients, was higher than that of the healthy control group. Moreover, no differential metabolite was found in the plasma of patients with AQP-4 antibody-positive and antibody-negative NMOSD. The content of five substances including 3-hydroxybutyric acid in cerebrospinal fluid of patients with NMOSD was reduced. We demonstrated that the distribution of metabolites in plasma between NMOSD patients and healthy counterparts was significantly different. However, there is no significant difference in plasma metabolites between AQP-4 antibody positive and negative NMOSD. There were some differences in metabolites between the cerebrospinal fluid of NMOSD patients and that of healthy controls. A variety of amino-acid abnormalities, sphingomyelin dysfunction, energy metabolism and mitochondrial dysfunction are involved in the pathogenesis of NMOSD.