Medicine (Baltimore). 2025 Mar 21;104(12):e41966. doi: 10.1097/MD.0000000000041966.
ABSTRACT
Disruptor of telomeric silencing 1-like (DOT1L) is a protein involved in epigenetic regulation, as well as in the Wnt and hypoxia signaling pathways. DOT1L has been found to play a role in the pathogenesis of various diseases associated with these pathways. In this study, it was aimed to determine serum DOT1L levels in patients with fibromyalgia (FM) and its association with disease activity. Forty-eight patients diagnosed with FM according to the 2016 American College of Rheumatology criteria and 48 healthy controls were included in the study. Disease activity was measured using clinical questionnaires (Fibromyalgia Impact Questionnaire [FIQ], Visual Analog Scale [VAS], Widespread Pain Index [WPI], Symptom Severity Score [SSS], Pittsburgh Sleep Quality Index [PSQI], Fatigue Severity Scale [FSS], Hospital Anxiety Scale [HAS] and Hospital Depression Scale [HDS]) and DOT1L levels were assessed using Enzyme-Linked ImmunoSorbent Assay in all serum samples. Additionally, routine biochemical analyses were performed. Pain duration, FIQ, VAS, WPI, SSS, PSQI, FSS, HAS, and HDS were found to be statistically significant higher in FM compared to the control group (P = .001). Compared with the control group (0.53 ± 0.12 ng/mL), DOT1L concentrations were significantly higher in patients with FM (1.47 ± 0.13 ng/mL; P = .001). In the FM group, DOT1L levels also showed a positive correlation with the results of the all the clinical questionnaires (P = .001). It was found that the DOT1L measurement value has a statistically significant effect in predicting the difference between the FM and control groups (P = .022). When the cutoff value for DOT1L was set at 0.315 ng/mL, it was found to have 79% sensitivity and 71.7% specificity in detecting FM. This study highlights the potential of DOT1L as a valuable biomarker for FM diagnosis.
PMID:40128062 | DOI:10.1097/MD.0000000000041966