Iu David S, Maya Jessica, Vu Luyen T, Fogarty Elizabeth A, McNairn Adrian J, Ahmed Faraz, Franconi Carl J, Munn Paul R, Grenier Jennifer K, Hanson Maureen R, Grimson Andrew
Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853.
Genomics Innovation Hub and TREx Facility, Cornell University, Ithaca, NY 14853.
Proc Natl Acad Sci U S A. 2024 Dec 10;121(50):e2415119121. doi: 10.1073/pnas.2415119121. Epub 2024 Dec 2.
Myalgic encephalomyelitis/chronic fatigue syndrome (ME) is a severe, debilitating disease, with substantial evidence pointing to immune dysregulation as a key contributor to pathophysiology. To characterize the gene regulatory state underlying T cell dysregulation in ME, we performed multiomic analysis across T cell subsets by integrating single-cell RNA-seq, RNA-seq, and ATAC-seq and further analyzed CD8+ T cell subpopulations following symptom provocation. Specific subsets of CD8+ T cells, as well as certain innate T cells, displayed the most pronounced dysregulation in ME. We observed upregulation of key transcription factors associated with T cell exhaustion in CD8+ T cell effector memory subsets, as well as an altered chromatin landscape and metabolic reprogramming consistent with an exhausted immune cell state. To validate these observations, we analyzed expression of exhaustion markers using flow cytometry, detecting a higher frequency of exhaustion-associated factors. Together, these data identify T cell exhaustion as a component of ME, a finding which may provide a basis for future therapies, such as checkpoint blockade, metabolic interventions, or drugs that target chronic viral infections.
肌痛性脑脊髓炎/慢性疲劳综合征(ME)是一种严重的、使人衰弱的疾病,大量证据表明免疫失调是其病理生理学的关键因素。为了描述ME中T细胞失调背后的基因调控状态,我们通过整合单细胞RNA测序、RNA测序和ATAC测序,对T细胞亚群进行了多组学分析,并在症状激发后进一步分析了CD8+ T细胞亚群。CD8+ T细胞的特定亚群以及某些先天性T细胞在ME中表现出最明显的失调。我们观察到,在CD8+ T细胞效应记忆亚群中,与T细胞耗竭相关的关键转录因子上调,同时染色质景观改变和代谢重编程,这与免疫细胞耗竭状态一致。为了验证这些观察结果,我们使用流式细胞术分析了耗竭标志物的表达,检测到更高频率的耗竭相关因子。这些数据共同确定T细胞耗竭是ME的一个组成部分,这一发现可能为未来的治疗提供基础,如检查点阻断、代谢干预或针对慢性病毒感染的药物。