@misc{10481/70548,
year = {2021},
url = {http://hdl.handle.net/10481/70548},
abstract = {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 overrepresented 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.},
organization = {Spanish Program for Young Investigators of the Ministerio
de Economía y Competitividad and Fondo Europeo de Desarrollo Regional (grant number SAF2015-
74313JIN; MINECO/FEDER, UE)},
organization = {“Programa Operativo FEDER 2014–2020 and Consejería
de Economía y Conocimiento de la Junta de Andalucía” (grant number B1-FQM-112-UGR18)},
publisher = {MDPI},
keywords = {Hereditary hemorrhagic telangiectasia},
keywords = {Liquid biopsy},
keywords = {Exosomes},
keywords = {miRNAs},
keywords = {Arteriovenous malformations},
title = {Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients},
doi = {10.3390/ijms22179450},
author = {Pozo Agundo, Ana and Villaescusa, Nerea and Martorell Marugán, Jordi and Soriano, Olga and Leyva, Socorro and Jódar Reyes, Ana Belén and Botella, Luisa María and Carmona Sáez, Pedro and Blanco Encomienda, Francisco Javier},
}