Hereditary Hemorrhagic Telangiectasia: Pathogenetic Mechanisms and Potential Therapies
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cells of the Nervous System".
Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 3005
Special Issue Editors
Interests: arteriovenous malformation; hereditary hemorrhagic telangiectasia; animal models; vascular biology; activin receptor-like kinase 1; bone morphogenetic proteins; signal transduction
Interests: vascular development; hereditary hemorrhagic telangiectasia; zebrafish; BMP signaling; mechanotransduction
Interests: Alzheimer’s disease; hereditary hemorrhagic telangiectasia
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Discoveries of pathogenic mutations in ENG and ACVRL1 for hereditary hemorrhagic telangiectasia (HHT) were reported over a quarter of a century ago. Since then, animal studies have demonstrated that a linear signaling defect in the BMP9/10-ENG-ALK1-SMAD pathway in endothelial cells is a central driver for the pathogenesis of HHT. Genetic studies in mouse models and HHT patients have also revealed that disease manifestation—i.e., formation of the arteriovenous malformations (AVMs)—requires secondary hits, most likely in the form of biallelic loss of the relevant HHT genes, as well as proangiogenic stimuli triggered by, for instance, inflammation or healing. However, detailed mechanisms by which the defects in this signaling pathway elicit HHT pathogenesis remain elusive, and although some progress has been made with the possible repurposing of anti-angiogenic and anti-proliferative drugs, an effective cure is still out of reach. Specifically, the downstream signaling mediators and effector genes of this signaling associated with the disease have not been clearly defined. Key cellular and biological impacts caused by the signaling defect for the initiation, progression and maintenance of AVMs are also unclear. The molecular nature of the interactions of this signaling pathway with other pathways is poorly understood. Downstream targets identified from proteomics and transcriptomic studies provide insights for the development of therapeutic targets for this malady. Supplementations of physiological or synthetic ligands for ENG-ALK1 signaling are also considered for therapy. This Special Issue focuses on the research topic of molecular mechanisms underlying AVM development, progression and rupture in HHT patients, and we welcome both original research and review manuscripts.
Prof. Dr. S. Paul Oh
Dr. Beth L. Roman
Dr. Philippe Marambaud
Guest Editors
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Keywords
- hereditary hemorrhagic telangiectasia
- activin receptor-like kinase 1
- endoglin
- SMAD4
- arteriovenous malformation
- endothelial cell
- animal model
- angiogenesis
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