Zhang Yunan, Zhen Jianhua, Sun Yuxiu, Li Yini, Zhou Yali, Li Chen, Tian Lichun
Life Science School, Beijing University of Chinese Medicine, Beijing 102488, China.
Department of Rheumatology, Fangshan Hospital, Beijing University of Chinese Medicine, Beijing, 102400, China.
Comb Chem High Throughput Screen. 2024 May 14. doi: 10.2174/0113862073289083240425114858.
Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare disease that is characterized by autoinflammatory lesions on both bones and skin. The diverse manifestations and limited understanding of its etiology have hindered the diagnosis and treatment of this condition. SAPHO syndrome is also classified as a primary inflammatory osteitis. The onset of osteoarticular involvement in this disease is typically gradual, and the identification of associated biomarkers may be crucial for accurate diagnosis, effective treatment, and a better understanding of its underlying mechanisms.
We enrolled a total of 6 SAPHO patients and 3 healthy volunteers for this study. The miRNA expression profile in circulating exosomes was analyzed using next-generation sequencing. A total of 45 miRNAs were found to be differentially expressed in SAPHO patients. Linear discriminant analysis effect size analysis and Wilcoxon rank-sum test were employed to identify biomarkers based on these differentially expressed miRNAs. Among them, we selected 4 miRNAs as biomarkers for SAPHO syndrome, resulting in an area under the receiver operating characteristic curve of 1.
The differentially expressed miRNAs indicated enrichment in immune system and endocrine system-related KEGG pathways, as well as infectious diseases and cancers. Furthermore, the most significantly enriched molecular functions in GO analysis were protein binding and catalytic activity.
The exosomal miRNA profile in SAPHO syndrome exhibited significant changes, suggesting its potential as a candidate biomarker for diagnostic assistance, although further investigation is warranted to elucidate their role in the pathology.
滑膜炎、痤疮、脓疱病、骨肥厚和骨炎（SAPHO）综合征是一种罕见疾病，其特征为骨骼和皮肤均出现自身炎症性病变。其多样的表现形式以及对病因的有限认识阻碍了该病症的诊断和治疗。SAPHO综合征也被归类为原发性炎症性骨炎。该疾病骨关节受累的发病通常较为隐匿，识别相关生物标志物对于准确诊断、有效治疗以及更好地理解其潜在机制可能至关重要。
本研究共纳入6例SAPHO患者和3名健康志愿者。使用下一代测序分析循环外泌体中的miRNA表达谱。共发现45种miRNA在SAPHO患者中差异表达。采用线性判别分析效应大小分析和Wilcoxon秩和检验基于这些差异表达的miRNA识别生物标志物。其中，我们选择了4种miRNA作为SAPHO综合征的生物标志物，其受试者工作特征曲线下面积为1。
差异表达的miRNA表明在免疫系统和内分泌系统相关的KEGG通路以及传染病和癌症中富集。此外，GO分析中最显著富集的分子功能是蛋白质结合和催化活性。
SAPHO综合征中外泌体miRNA谱表现出显著变化，表明其作为诊断辅助候选生物标志物的潜力，尽管需要进一步研究以阐明它们在病理过程中的作用。
