A clinical study showing the expression characteristics of cuproptosis markers in cases with Wilson disease.

This study investigates levels of cuproptosis markers in Wilson disease (WD) and their role in the occurrence and development of WD. We retrospectively collected clinical data from 76 patients with Leipzig score ≥ 4 hospitalized in the First Affiliated Hospital of Anhui University of Chinese Medicine from January 2023 to September 2023. The participants were given copper chelators (sodium dimercaptosulphonate (20 mg·kg-1), 4 courses of treatment, 32 days). The levels of clinical indicators (ALT, AST, ALP, HA, LN, PIIINP, CIV, liver stiffness measurement, United Wilson disease rating scale), oxidative stress indexes (SOD, MDA, GSH), cuproptosis markers (FDX1, DLAT, LIAS, ACO-2, SDHB, PLOD1, DPYD) of the participants were measured before and after treatment. Compared with the control group, FDX1, DLAT, DPYD, and POLD1 in WD were significantly up-regulated before treatment (6464.34 ± 2980.66 vs 4125.43 ± 2230.13 pg ⋅ mL-1, P < .001, 1364.36 ± 376.81 vs 884.22 ± 175.42 pg ⋅ mL-1, P < .001, 279.74 ± 123.63 vs 155.68 ± 67.32 pg ⋅ mL-1, P < .001, 3536.11 ± 1404.83 vs 1487.76 ± 658.26 pg ⋅ mL-1, P < .001), while SDHB was significantly down-regulated (2458.75 ± 1103.75 vs 5338.22 ± 921.54 pg ⋅ mL-1, P < .05). SOD was significantly down-regulated before treatment (13.20 ± 2.06 vs 13.27 ± 1.79 U ⋅ mgprot-1, P < .05), while MDA and GSH were significantly up-regulated (10.53 ± 4.76 vs 4.92 ± 1.81 nmol ⋅ mL-1, P < .001, 49.28 ± 25.55 vs 24.70 ± 12.01 µol ⋅ L-1, P < .001). POLD1 were down-regulated (3536.11 ± 1404.83 vs 1487.76 ± 658.26 pg ⋅ mL-1, P < .001), and SDHB was up-regulated after treatment (2458.75 ± 1103.75 vs2709.61 ± 906.95 pg ⋅ mL-1, P < .05), while SOD, MDA and GSH were significantly down-regulated (13.20 ± 2.06 vs 12.48 ± 1.52 U ⋅ mgprot-1, P < .05, 10.53 ± 4.76 vs 7.65 ± 3.65 nmol ⋅ mL-1, P < .001, 49.28 ± 25.55 vs 34.09 ± 15.02 µmol ⋅ L-1, P < .001). The expression levels of cuproptosis markers and oxidative stress indexes are abnormal in WD patients. However, chelation therapy can improve the recovery of cuproptosis markers, oxidative stress indexes, and hepatic fibrosis indexes.