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Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia - BVMC 6203

ABSTRACT: Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia - BVMC 6203

PROVIDER: PRJNA512297 | ENA |

REPOSITORIES: ENA

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Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia - BVMC 6203

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

| PRJNA512298 | ENA

PIEZO1 overexpression in hereditary hemorrhagic telangiectasia arteriovenous malformations

Project description:PIEZO1 overexpression in hereditary hemorrhagic telangiectasia arteriovenous malformations

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

Project description:Arteriovenous malformations (AVMs) are characteristic of hereditary hemorrhagic telangiectasia (HHT). We used single cell RNA sequencing (scRNA-seq) to analyzed the pulmonary ECs in mice with endothelial-specific deletion of Alk1 gene.

2025-02-12 | GSE242741 | GEO

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

Project description:Arteriovenous malformations (AVMs) are characteristic of hereditary hemorrhagic telangiectasia (HHT). We used single cell RNA sequencing (scRNA-seq) to trace pulmonary EC lineages in mice with endothelial-specific deletion of Alk1 gene.

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

Project description:Distinct endothelial cell cycle states (early G1 vs. late G1) provide different “windows of opportunity” to enable the differential expression of genes that regulate venous and arterial specification, respectively. Endothelial cell cycle control and arterial-venous identities are disrupted in vascular malformations including arteriovenous (AV) shunts which is a hallmark of hereditary hemorrhagic telangiectasia (HHT). We show how endothelial cell late G1 arrest induced by Palbociclib modulates the expression of genes regulating arterio-venous identity and prevents AVM development induced by BMP9/10 inhibition.

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ERK overstimulation leads to cell hyperproliferation in hereditary hemorrhagic telangiectasia landscape.

Project description:ERK overstimulation leads to cell hyperproliferation in hereditary hemorrhagic telangiectasia landscape.

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PIEZO1 overexpression in hereditary hemorrhagic telangiectasia arteriovenous malformations

Project description:Background: Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder characterized by arteriovenous malformations (AVMs). Loss-of-function mutations in Activin receptor-like kinase 1 (ALK1) cause type 2 HHT and Alk1 knockout (KO) mice develop AVMs along with overactivation of VEGFR2/PI3K/AKT signaling. The full spectrum of signaling alterations resulting from ALK1 mutations remains unknown, and more effective and specific inhibitors to combat AVM formation in patients are needed. Methods: Single-cell RNA sequencing of endothelial-specific Alk1 KO mouse retinas and controls was performed. Overexpression of fluid shear stress signaling signatures including the mechanosensitive ion channel PIEZO1 was confirmed in mouse and human HHT2 lesions. Genetic and pharmacological PIEZO1 inhibition was tested in Alk1 KO mice, along with downstream PIEZO1 signaling. Results: A cluster of Alk1 mutant endothelial cells with altered arterio-venous identity overexpressed pathways related to fluid shear stress, hypoxia, inflammation, cell cycle and VEGFR2/PI3K/AKT signaling. Piezo1 deletion and pharmacological inhibition in Alk1-deficient mice mitigated AVM formation, whereas Piezo1 overexpression enhanced AVM formation induced by ALK1 ligand blockade. Mechanistically, PIEZO1 inhibition reduced elevated VEGFR2/AKT, ERK5-p62-KLF4, eNOS, hypoxia, proliferation and inflammation in ALK1 deficient endothelium. Conclusions: PIEZO1 expression and signaling are elevated in HHT2. PIEZO1 blockade reduces AVM formation and alleviates cellular and molecular hallmarks of ALK1-deficient cells. This finding provides new insights into the mechanistic underpinnings of ALK1-related vascular diseases and identifies potential therapeutic targets to prevent AVMs.

2025-07-18 | GSE298122 | GEO

Induced Endothelial Cell Cycle Arrest Prevents Arterio-venous Malformations in Hereditary Hemorrhagic Telangiectasia

Project description:Induced Endothelial Cell Cycle Arrest Prevents Arterio-venous Malformations in Hereditary Hemorrhagic Telangiectasia

| PRJNA1026146 | ENA

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

| PRJNA743520 | ENA

ERK overstimulation leads to cell hyperproliferation in hereditary hemorrhagic telangiectasia landscape.

Project description:Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disorder caused by pathogenic variants in members of the BMP9/ALK1 signaling hub. In the present study we show that, regardless of whether the alterations are caused by reduced BMP9/ALK1 signaling (pathogenic variants in the ENG or ALK1 genes) or by overactivation of this pathway (such as the SMAD6 pathogenic variants), all are associated with increased endothelial cell (EC) proliferation and high levels of ERK MAPK activation in patient biopsies. We reproduced this phenotype in vitro in ECs lacking SMAD6 or after SMAD1 knockdown using siRNA. Loss of SMAD6 leads to dysregulation of the Notch pathway, with downregulation of phosphatases and consequent overstimulation of ERK. In normal ECs, BMP9 and Notch signaling inhibit ERK activity by upregulating PPP1R3C, a regulatory subunit of the PP1 phosphatase. Notably, BMP9-mediated inhibition of ERK is abolished when cells are transfected with siRNA targeting PPP1R3C. ERK hyperactivation was also observed in an HHT2 mouse model (ALK1-2loxP;Cdh5-CreERT2). Loss of both ALK1 alleles in adult mice leads to vascular failure and hemorrhages in the lung and intestine; these injuries are significantly reduced by treatment with the MEK/ERK inhibitor selumetinib. Overall, our work identifies a key role for ERK activation involved in HHT pathogenesis, suggesting that ERK inhibition may represent a promising therapeutic strategy for these patients.

2026-07-23 | GSE339114 | GEO

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