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| Status |
Public on Sep 28, 2021 |
| Title |
Identification of Exosomal microRNA signature by liquid biopsy in Hereditary Hemorrhagic Telangiectasia patients |
| Organism |
Homo sapiens |
| Experiment type |
Non-coding RNA profiling by high throughput sequencing
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| Summary |
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant vascular dysplasia characterized by epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVM) in visceral organs. In this study, we carried out a liquid biopsy consisting in the isolation of total RNA from plasma exosomes samples from HHT type 1 (HHT1 group) and type 2 (HHT2 group) patients, and healthy relatives (Control group). Upon gene expression data processing and normalization, a bioinformatics analysis was performed for the study of principal components, hierarchical clustering and pairwise comparisons between HHT samples and control group. Results were evaluated in a further validation cohort of HHT and healthy donors by real time PCR and the diagnosis value of exosomal miRNA determined by the ROC curves analysis. We found that exosomal miRNA expression signature clearly distinguishes among healthy and HHT samples and types. Thus, we identified a disease-associated molecular fingerprint of 35 miRNAs over-represented, being 8 specifics for HHT1 and 11 for HHT2; and 30 under-represented, including 9 distinctive for HHT1 and 9 for HHT2. These exosome-transported miRNAs have diagnosis value for HHT, and even allow to distinguish between HHT1 and HHT2.
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| Overall design |
Control group, healthy donors (n=10); HHT1 patients group (n=15); HHT2 patients group (n=15). Each sample was analyzed in triplicates.
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| Contributor(s) |
Pozo-Agundo A, Villaescusa N, Martorell-Marugán J, Soriano O, Leyva S, Jódar-Reyes A, Botella L, Carmona-Sáez P, Blanco F |
| Citation(s) |
- Pozo-Agundo A, Villaescusa N, Martorell-Marugán J, Soriano O et al. Identification of Exosomal MicroRNA Signature by Liquid Biopsy in Hereditary Hemorrhagic Telangiectasia Patients. Int J Mol Sci 2021 Aug 31;22(17). PMID: 34502358
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| Submission date |
Jul 03, 2021 |
| Last update date |
Sep 28, 2021 |
| Contact name |
Jordi Martorell-Marugan |
| Organization name |
GENyO
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| Department |
Bioinformatics Unit
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| Street address |
Avenida de la Ilustración 114
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| City |
Granada |
| ZIP/Postal code |
18016 |
| Country |
Spain |
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