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Single cell RNA analysis of lung endothelial cells in mouse model of Hereditary Hemorrhagic Telangiectasia 2

ABSTRACT: Single cell RNA analysis of lung endothelial cells in mouse model of Hereditary Hemorrhagic Telangiectasia 2

PROVIDER: PRJNA1014443 | ENA |

REPOSITORIES: ENA

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Single cell RNA analysis of lung endothelial cells in mouse model of Hereditary Hemorrhagic Telangiectasia 2

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2025-02-12 | GSE242741 | GEO

Single cell lineage tracing of pulmonary endothelial cells in mouse model of Hereditary Hemorrhagic Telangiectasia 2

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Induced Endothelial Cell Cycle Arrest Prevents Arterio-venous Malformations in Hereditary Hemorrhagic Telangiectasia (Bulk RNA-Seq)

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Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia - BVMC 6203

Project description:Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia - BVMC 6203

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Identification of Exosomal microRNA signature by liquid biopsy in Hereditary Hemorrhagic Telangiectasia patients

Project description:Identification of Exosomal microRNA signature by liquid biopsy in Hereditary Hemorrhagic Telangiectasia patients

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Identification of Exosomal microRNA signature by liquid biopsy in Hereditary Hemorrhagic Telangiectasia patients

Project description: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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