Erdem Mehmet, Kiran Tuğba Raika, Otlu Önder, Aydoğan Baykara Rabia, İnceoğlu Feyza
Department of Medical Biochemistry, Faculty of Medicine, Malatya Turgut Özal University, Malatya, Turkey.
Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Malatya Turgut Özal University, Malatya, Turkey.
Medicine (Baltimore). 2025 Mar 21;104(12):e41966. doi: 10.1097/MD.0000000000041966.
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.
端粒沉默破坏因子1样蛋白(DOT1L)是一种参与表观遗传调控以及Wnt和缺氧信号通路的蛋白质。已发现DOT1L在与这些通路相关的各种疾病的发病机制中起作用。在本研究中,旨在确定纤维肌痛(FM)患者的血清DOT1L水平及其与疾病活动的关联。根据2016年美国风湿病学会标准诊断为FM的48例患者和48例健康对照纳入本研究。使用临床问卷(纤维肌痛影响问卷[FIQ]、视觉模拟量表[VAS]、广泛性疼痛指数[WPI]、症状严重程度评分[SSS]、匹兹堡睡眠质量指数[PSQI]、疲劳严重程度量表[FSS]、医院焦虑量表[HAS]和医院抑郁量表[HDS])测量疾病活动度,并使用酶联免疫吸附测定法评估所有血清样本中的DOT1L水平。此外,进行了常规生化分析。与对照组相比,FM患者的疼痛持续时间、FIQ、VAS、WPI、SSS、PSQI、FSS、HAS和HDS在统计学上显著更高(P = 0.001)。与对照组(0.53±0.12 ng/mL)相比,FM患者的DOT1L浓度显著更高(1.47±0.13 ng/mL;P = 0.001)。在FM组中,DOT1L水平也与所有临床问卷的结果呈正相关(P = 0.001)。发现DOT1L测量值在预测FM组和对照组之间的差异方面具有统计学显著影响(P = 0.022)。当DOT1L的临界值设定为0.315 ng/mL时,发现其在检测FM时具有79%的敏感性和71.7%的特异性。本研究强调了DOT1L作为FM诊断有价值生物标志物的潜力。