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Article

Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients

1
Department of Biochemistry and Molecular Biology (III) and Inmunology, School of Medicine, University of Granada, 18016 Granada, Spain
2
Centre for Biomedical Research, Biopathology and Regenerative Medicine Institute (IBIMER), University of Granada, 18016 Granada, Spain
3
Bioinformatics Unit, Pfizer, Andalusian Government Centre of Genomics and Oncological Research (GENYO), University of Granada, 18016 Granada, Spain
4
Department of Statistics and OR, University of Granada, 18016 Granada, Spain
5
San Cecilio Clinic Universitary Hospital, 18016 Granada, Spain
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Biocolloid and Fluid Physics Group, Excellence Research Unit Modeling Nature (MNat), Department of Applied Physics, School of Sciences, University of Granada, 18071 Granada, Spain
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Department of Molecular Biomedicine, Centro de Investigaciones Biológicas (CSIC), 28040 Madrid, Spain
8
Centro de Investigación Biomédica en Red, CIBERER, Instituto de Salud Carlos III, 28040 Madrid, Spain
*
Author to whom correspondence should be addressed.
These authors contribute equally to this paper.
Academic Editor: Luc Rochette
Int. J. Mol. Sci. 2021, 22(17), 9450; https://doi.org/10.3390/ijms22179450
Received: 15 July 2021 / Revised: 26 August 2021 / Accepted: 27 August 2021 / Published: 31 August 2021
(This article belongs to the Special Issue Emerging New Biomarkers for Cardiovascular Disease)
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. View Full-Text
Keywords: hereditary hemorrhagic telangiectasia; liquid biopsy; exosomes; miRNAs; arteriovenous malformations hereditary hemorrhagic telangiectasia; liquid biopsy; exosomes; miRNAs; arteriovenous malformations
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MDPI and ACS Style

Pozo-Agundo, A.; Villaescusa, N.; Martorell-Marugán, J.; Soriano, O.; Leyva, S.; Jódar-Reyes, A.B.; Botella, L.M.; Carmona-Sáez, P.; Blanco, F.J. Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients. Int. J. Mol. Sci. 2021, 22, 9450. https://doi.org/10.3390/ijms22179450

AMA Style

Pozo-Agundo A, Villaescusa N, Martorell-Marugán J, Soriano O, Leyva S, Jódar-Reyes AB, Botella LM, Carmona-Sáez P, Blanco FJ. Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients. International Journal of Molecular Sciences. 2021; 22(17):9450. https://doi.org/10.3390/ijms22179450

Chicago/Turabian Style

Pozo-Agundo, Ana, Nerea Villaescusa, Jordi Martorell-Marugán, Olga Soriano, Socorro Leyva, Ana Belén Jódar-Reyes, Luisa María Botella, Pedro Carmona-Sáez, and Francisco Javier Blanco. 2021. "Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients" International Journal of Molecular Sciences 22, no. 17: 9450. https://doi.org/10.3390/ijms22179450

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