2024-02-07 11:45:48
Hereditary hemorrhagic telangiectasia is a rare disease that affects one in every 6,000 people, causing vascular malformations, both in capillaries (called telangiectasias) and in larger vessels, especially in the lungs and liver. The most frequent clinical manifestation of the pathology is repeated nosebleeds, due to the presence of telangiectasias at this level.
A recent study offers unprecedented insights into the molecular mechanisms leading to hereditary hemorrhagic telangiectasia, by detecting a mechanism consisting of accelerated cell turnover in these vascular malformations. Furthermore, research shows that inhibiting the mechanism can prevent the development of vascular malformations.
The study is the work of researchers from the University of Virginia in the United States, in collaboration with specialists from the Catalan Institute of Oncology (ICO), the Bellvitge University Hospital (HUB) in Hospitalet de Llobregat, Barcelona, and the Biomedical Research Institute of Bellvitge (IDIBELL), located in Hospitalet de Llobregat and which is one of the institutions NEAR the Generalitat of Catalonia.
The team, led by Gael Genet, from the University of Virginia, has been able to provide evidence of this new mechanism also in cutaneous telangiectasias of patients with hereditary hemorrhagic telangiectasia. The knowledge will be very useful for patients with hereditary hemorrhagic telangiectasia, as well as for those with vascular malformations of other conditions, some also considered minority diseases. Translational research has been the way of working during research, in which clinical questions were studied in cellular models or with animals in the laboratory to return the information directly to the analysis with patients.
Members of the research team: (Photo: IDIBELL)
Dr. also participated in the study. Antoni Riera-Mestre, head of the research group on systemic, vascular and aging diseases at IDIBELL and the HUB, and Dr. Pau Cerdà Serra and Dr. Agnès Figueras, researchers of the IDIBELL Oncobell Program and the ICO.
The study is titled “Induced Endothelial Cell Cycle Arrest Prevents Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia.” And it has been published in the academic journal Circulation. (Source: IDIBELL)
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