JCI Insight. 2024 Nov 22;9(22):e181488. doi: 10.1172/jci.insight.181488.
Graves' disease (GD) is an autoimmune condition that can progress to Graves' ophthalmopathy (GO), leading to irreversible damage to orbital tissues and potential blindness. The pathogenic mechanism is not fully understood. In this study, we conducted single-cell multi-omics analyses on healthy individuals, patients with GD without GO, newly diagnosed patients with GO, and treated patients with GO. Our findings revealed gradual systemic inflammation during GO progression, marked by overactivation of cytotoxic effector T cell subsets, and expansion of specific T cell receptor clones. Importantly, we observed a decline in the immunosuppressive function of activated Treg (aTreg) accompanied by a cytotoxic phenotypic transition. In vitro experiments revealed that dysfunction and transition of GO-autoreactive Treg were regulated by the yin yang 1 (YY1) upon secondary stimulation of thyroid stimulating hormone receptor (TSHR) under inflammatory conditions. Furthermore, adoptive transfer experiments of the GO mouse model confirmed infiltration of these cytotoxic Treg into the orbital lesion tissues. Notably, these cells were found to upregulate inflammation and promote pathogenic fibrosis of orbital fibroblasts (OFs). Our results reveal the dynamic changes in immune landscape during GO progression and provide direct insights into the instability and phenotypic transition of Treg, offering potential targets for therapeutic intervention and prevention of autoimmune diseases.
格雷夫斯病(GD)是一种自身免疫性疾病,可进展为格雷夫斯眼病(GO),导致眼眶组织不可逆损伤和潜在失明。其发病机制尚未完全阐明。本研究对健康个体、无 GO 的 GD 患者、新诊断的 GO 患者和治疗后的 GO 患者进行了单细胞多组学分析。我们的研究结果表明,在 GO 进展过程中存在逐渐加重的系统性炎症,表现为细胞毒性效应 T 细胞亚群的过度激活和特定 T 细胞受体克隆的扩增。重要的是,我们观察到激活的调节性 T 细胞(aTreg)的免疫抑制功能下降,同时伴随着细胞毒性表型的转变。体外实验表明,在炎症条件下,甲状腺刺激素受体(TSHR)的二次刺激调控了 GO 自身反应性 Treg 的功能障碍和表型转变,其机制与 yin yang 1(YY1)有关。此外,GO 小鼠模型的过继转移实验证实了这些细胞毒性 Treg 浸润到眼眶病变组织中。值得注意的是,这些细胞上调炎症反应,促进眼眶成纤维细胞(OFs)的致病纤维化。本研究揭示了 GO 进展过程中免疫景观的动态变化,并为 Treg 的不稳定性和表型转变提供了直接证据,为自身免疫性疾病的治疗干预和预防提供了潜在靶点。