The clingen lysosomal diseases gene curation expert panel: applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease

Aminoacyl-tRNA synthetase complex interacting with multifunctional protein-1 (AIMP1) has been reported to carry pro-inflammatory properties and anti-angiogenesis effects. However, the exact role of AIMP1 in patients with NMOSD is not yet clear. Our objective was to investigate the relationship between plasma AIMP1 levels and disease severity in patients with AQP4-IgG+ NMOSD from North China based on the Expanded Disability Status Scale (EDSS) score.Plasma AIMP1 levels were measured using ELISA kits in 94 patients with AQP4-IgG+NMOSD (48 in the acute phase before high-dose intravenous methylprednisolone (IVMP) therapy, 21 in the acute phase after IVMP therapy, 25 in the clinical remission-phase)as well as 33 healthy controls (HCs). The disability function of NMOSD patients was evaluated using the EDSS score. Furthermore, the clinical characteristics of the patients were also evaluated, and laboratory tests were performed on blood samples.The plasma AIMP1 levels in AQP4-IgG+NMOSD patients with acute phase before IVMP therapy were significantly higher as compared to those in patients after the IVMP therapy (p < 0.001) as well as those in the clinical remission phase (p = 0.021) or HCs (p < 0.001). Plasma AIMP1 levels were positively correlated with EDSS scores (r = 0.485, p < 0.001) and negatively correlated with serum complement 3 concentrations (r =-0.452, p = 0.001). AIMP1 exhibited the potential to distinguish NMOSD from HCs (AUROC 0.820, p < 0.0001) and could differentiate mild and moderate-severe NMOSD (AUROC 0.790, p = 0.0006). Furthermore, plasma AIMP1 levels of ≥49.55pg/mL were found to be an independent predictor of the risk for moderate-severe NMOSD (with OR 0.03, 95%CI 0.001–0.654, p = 0.026).AIMP1 may be involved in the pathogenesis of AQP4-IgG+NMOSD disease and predict the disease activity, severity, or effect of treatment in patients with NMOSD. Further studies should be performed to reveal the precise mechanisms of AQP4-IgG+NMOSD.