Department of Dermatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Department of Dermatology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.
Rheumatology (Oxford). 2023 Jun 1;62(6):2267-2271. doi: 10.1093/rheumatology/keac632.
Anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive rapidly progressive interstitial lung disease (RP-ILD) is a life-threatening disease, the aetiology of which remains unclear. To detect potential diagnostic markers, a transcriptome analysis of the lung sample from a patient with anti-MDA5 antibody-positive RP-ILD was performed.
RNA sequencing analyses of an autopsy lung sample from a 74-year-old woman with anti-MDA5 antibody-positive RP-ILD was performed and compared with an age- and sex-matched normal lung sample. Genes with changes of gene expression ≥5-fold were considered differentially expressed genes and analysed by Metascape. The levels of leukaemia inhibitory factor (LIF) were measured in the serum samples from 12 cases of anti-MDA5 antibody-positive ILD, 12 cases of anti-aminoacyl tRNA synthetase (ARS) antibody-positive ILD, 10 cases of anti-transcription intermediary factor 1γ/anti-Mi-2 antibody DM and 12 healthy volunteers.
Gene ontology enrichment analysis on the RNA sequencing data showed a strong association with antigen binding. Upregulated expressions of IL-1β, IL-6 and LIF were also detected. Serum LIF levels were significantly elevated in anti-MDA5 antibody-positive ILD patients {median 32.4 pg/ml [interquartile range (IQR) 13.2-125.7]} when compared with anti-ARS antibody-positive ILD patients [4.9 pg/ml (IQR 3.1-19.7), P < 0.05] and DM patients [5.3 pg/ml (IQR 3.9-9.7), P < 0.05].
Our present study suggested that upregulation of LIF might be a new potential disease marker specific for anti-MDA5 antibody-positive ILD.
抗黑色素瘤分化相关基因 5(MDA5)抗体阳性快速进展性间质性肺病(RP-ILD)是一种危及生命的疾病,其病因仍不清楚。为了检测潜在的诊断标志物,对 1 例抗 MDA5 抗体阳性 RP-ILD 患者的肺样本进行了转录组分析。
对 1 例 74 岁女性抗 MDA5 抗体阳性 RP-ILD 尸检肺样本进行 RNA 测序分析,并与年龄和性别匹配的正常肺样本进行比较。基因表达变化≥5 倍的基因被认为是差异表达基因,并通过 Metascape 进行分析。在 12 例抗 MDA5 抗体阳性 ILD、12 例抗氨酰基 tRNA 合成酶(ARS)抗体阳性 ILD、10 例抗转录中介因子 1γ/抗 Mi-2 抗体 DM 和 12 名健康志愿者的血清样本中测量白血病抑制因子(LIF)的水平。
RNA 测序数据的基因本体富集分析显示与抗原结合具有很强的相关性。还检测到 IL-1β、IL-6 和 LIF 的上调表达。与抗 ARS 抗体阳性 ILD 患者[中位数 4.9pg/ml(IQR 3.1-19.7),P<0.05]和 DM 患者[中位数 5.3pg/ml(IQR 3.9-9.7),P<0.05]相比,抗 MDA5 抗体阳性 ILD 患者的血清 LIF 水平明显升高{中位数 32.4pg/ml(IQR 13.2-125.7)}。
本研究提示 LIF 的上调可能是抗 MDA5 抗体阳性 ILD 的一种新的潜在疾病标志物。