RT Journal Article
T1 Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients
A1 Pozo-Agundo, Ana
A1 Villaescusa, Nerea
A1 Martorell-Marugán, Jordi
A1 Soriano, Olga
A1 Leyva, Socorro
A1 Jódar-Reyes, Ana Belén
A1 Botella, Luisa María
A1 Carmona-Sáez, Pedro
A1 Blanco, Francisco Javier
K1 Hereditary hemorrhagic telangiectasia
K1 Liquid biopsy
K1 Exosomes
K1 MiRNAs
K1 Arteriovenous malformations
K1 Telangiectasia hemorrágica hereditaria
K1 Biopsia líquida
K1 Exosomas
K1 MicroARNs
K1 Malformaciones arteriovenosas
AB Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular dysplasia characterized by epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVM) in the visceral organs. The diagnosis of HHT is based on clinical Curaçao criteria, which show limited sensitivity in children and young patients. Here, we carried out a liquid biopsy by which we isolated total RNA from plasma exosome samples. A cohort of 15 HHT type 1 patients, 15 HHT type 2 patients, and 10 healthy relatives were analyzed. Upon gene expression data processing and normalization, a statistical analysis was performed to explore similarities in microRNA expression patterns among samples and detect differentially expressed microRNAs between HHT samples and the control group. We found a disease-associated molecular fingerprint of 35 miRNAs over-represented in HHT vs. controls, with eight being specific for HHT1 and 11 for HHT2; we also found 30 under-represented, including nine distinct for HHT1 and nine for HHT2. The analysis of the receiver operating characteristic (ROC) curves showed that eight miRNAs had good (AUC > 75%) or excellent (AUC > 90%) diagnosis value for HHT and even for type HHT1 and HHT2. In addition, we identified the cellular origin of these miRNAs among the cell types involved in the vascular malformations. Interestingly, we found that only some of them were incorporated into exosomes, which suggests a key functional role of these exosomal miRNAs in the pathophysiology of HHT.
PB MDPI
YR 2021
FD 2021-08-31
LK http://hdl.handle.net/10668/3979
UL http://hdl.handle.net/10668/3979
LA en
NO Pozo-Agundo A, Villaescusa N, Martorell-Marugán J, Soriano O, Leyva S, Jódar-Reyes AB, et al. Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients. Int J Mol Sci. 2021 Aug 31;22(17):9450
DS RISalud
RD Apr 6, 2025