Deciphering the circulating microRNA signature of hemophilic arthropathy

• Published in: Thrombosis research 2024-09, Vol.241, p.109099, Article 109099
• Main Authors: Leuci, Alexandre, Marano, Muriel, Millet, Marjorie, Lienhart, Anne, Desage, Stephanie, Chapurlat, Roland, Dargaud, Yesim
• Format: Article
• Language: English
• Subjects: Arthropathy; Biomarker; Hemophilia; microRNA; miR208a-3p; miR524-3p
• ISSN: 0049-3848; 1879-2472; 1879-2472
• DOI: 10.1016/j.thromres.2024.109099

Haemophilic arthropathy (HArt) is a serious complication in patients with hemophilia. Early diagnosis and treatment are essential to minimise the development of HArt. The use of biomarkers may improve early diagnosis of HArt. Circulating microRNAs (miRNAs) are small, non-coding RNAsthat regulate gene expression, and are being investigated as promising biomarkers due to their role in joint and bone metabolism. To investigate differential expression of miRNAs and their relationship to arthropathy in patients with hemophilia A. miRNA expression was examined in a pilot study followed by a validation study (100 hemophilia A patients with [n = 83] and without HArt [n = 17], 14 controls). Differential miRNA expression was investigated using real-time quantitative PCR. The pilot study identified 2 miRNAs differentially expressed in patients with Hart (Pettersson score ≥ 1), after adjusting for the false discovery rate (FDR). The validation study evaluated these 2 miRNAs. The results demonstrated that two miRNAs (miR- 208a-3p and 524-3p) were significantly underexpressed in plasma of patients with HArt compared to patients without arthropathy, with FDR