首页 > 资讯 > 人内源性逆转录病毒激活将肌痛性脑脊髓炎/慢性疲劳综合征与纤维肌痛区分开来，同时定义了一种新的疾病实体。

人内源性逆转录病毒激活将肌痛性脑脊髓炎/慢性疲劳综合征与纤维肌痛区分开来，同时定义了一种新的疾病实体。

泰然健康网
2026-03-23 05:33

Abstract

Research of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and fibromyalgia (FM), two acquired chronic illnesses affecting mainly females, has failed to ascertain their frequent co-appearance and etiology. Despite prior detection of human endogenous retrovirus (HERV) activation in these diseases, the potential biomarker value of HERV expression profiles for their diagnosis, and the relationship of HERV expression profiles with patient immune systems and symptoms had remained unexplored. By using HERV-V3 high-density microarrays (including over 350k HERV elements and more than 1500 immune-related genes) to interrogate the transcriptomes of peripheral blood mononuclear cells from female patients diagnosed with ME/CFS, FM, or both, and matched healthy controls ( = 43), this study fills this gap of knowledge. Hierarchical clustering of HERV expression profiles strikingly allowed perfect participant assignment into four distinct groups: ME/CFS, FM, co-diagnosed, or healthy, pointing at a potent biomarker value of HERV expression profiles to differentiate between these hard-to-diagnose chronic syndromes. Differentially expressed HERV-immune-gene modules revealed unique profiles for each of the four study groups and highlighting decreased γδ T cells, and increased plasma and resting CD4 memory T cells, correlating with patient symptom severity in ME/CFS. Moreover, activation of HERV sequences coincided with enrichment of binding sequences targeted by transcription factors which recruit SETDB1 and TRIM28, two known epigenetic silencers of HERV, in ME/CFS, offering a mechanistic explanation for the findings. Unexpectedly, HERV expression profiles appeared minimally affected in co-diagnosed patients denoting a new nosological entity with low epigenetic impact, a seemingly relevant aspect for the diagnosis and treatment of this prevalent group of patients.

摘要

肌痛性脑脊髓炎/慢性疲劳综合征（ME/CFS）和纤维肌痛（FM）是两种主要影响女性的后天性慢性病，对它们共同出现的频率和病因的研究尚未得出定论。尽管此前已检测到这些疾病中存在人类内源性逆转录病毒（HERV）激活，但HERV表达谱在其诊断中的潜在生物标志物价值，以及HERV表达谱与患者免疫系统和症状之间的关系仍未得到探索。本研究通过使用HERV-V3高密度微阵列（包括超过35万个HERV元件和1500多个免疫相关基因）来检测诊断为ME/CFS、FM或两者皆有的女性患者以及匹配的健康对照（n = 43）外周血单个核细胞的转录组，填补了这一知识空白。HERV表达谱的层次聚类显著地将参与者完美地分为四个不同的组：ME/CFS、FM、共诊断组或健康组，这表明HERV表达谱在区分这些难以诊断的慢性综合征方面具有强大的生物标志物价值。差异表达的HERV-免疫基因模块揭示了四个研究组各自独特的谱型，并突出显示了γδ T细胞减少，以及血浆和静息CD4记忆T细胞增加，这与ME/CFS患者的症状严重程度相关。此外，在ME/CFS中，HERV序列的激活与转录因子靶向的结合序列富集相吻合，这些转录因子招募了SETDB1和TRIM28，这两种已知的HERV表观遗传沉默因子，为研究结果提供了一个机制性解释。出乎意料的是，在共诊断患者中，HERV表达谱似乎受影响最小，这表明存在一种新的疾病实体，其表观遗传影响较低，这对于诊断和治疗这一普遍患者群体似乎是一个相关方面。