Version 1
: Received: 26 April 2024 / Approved: 26 April 2024 / Online: 27 April 2024 (07:39:28 CEST)
How to cite:
Lorente-Herraiz, L.; Cuesta, Á.M.; Recio-Poveda, L.; Botella, L.M.; Albiñana, V. Endothelial to Mesenchymal Transition in an HHT-like pediatric case of Multiple Pulmonary Arteriovenous Malformations. Preprints2024, 2024041781. https://doi.org/10.20944/preprints202404.1781.v1
Lorente-Herraiz, L.; Cuesta, Á.M.; Recio-Poveda, L.; Botella, L.M.; Albiñana, V. Endothelial to Mesenchymal Transition in an HHT-like pediatric case of Multiple Pulmonary Arteriovenous Malformations. Preprints 2024, 2024041781. https://doi.org/10.20944/preprints202404.1781.v1
Lorente-Herraiz, L.; Cuesta, Á.M.; Recio-Poveda, L.; Botella, L.M.; Albiñana, V. Endothelial to Mesenchymal Transition in an HHT-like pediatric case of Multiple Pulmonary Arteriovenous Malformations. Preprints2024, 2024041781. https://doi.org/10.20944/preprints202404.1781.v1
APA Style
Lorente-Herraiz, L., Cuesta, Á.M., Recio-Poveda, L., Botella, L.M., & Albiñana, V. (2024). Endothelial to Mesenchymal Transition in an HHT-like pediatric case of Multiple Pulmonary Arteriovenous Malformations. Preprints. https://doi.org/10.20944/preprints202404.1781.v1
Chicago/Turabian Style
Lorente-Herraiz, L., Luisa M. Botella and Virginia Albiñana. 2024 "Endothelial to Mesenchymal Transition in an HHT-like pediatric case of Multiple Pulmonary Arteriovenous Malformations" Preprints. https://doi.org/10.20944/preprints202404.1781.v1
Abstract
Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies resulting in abnormal connection between pulmonary arteries and veins. In 80% of cases, PAVMs are present from birth, but clinical manifestations are rarely seen in childhood. These congenital malformations are typically associated with Hereditary Hemorrhagic Telangiectasia (HHT), a rare disease that affects 1 in 5,000/8,000 individuals. HHT disease is frequently caused by mutations in genes involved in the TGF-β pathway. However, approximately 15% of patients do not have a genetic diagnosis and, among the genetically diagnosed, more than 33% do not meet the Curaçao Criteria. This makes clinical diagnosis even more challenging in the pediatric age group. Here, we introduce an 8 years old patient bearing a severe phenotype of multiple diffuse PAVMs caused by an unknown mutation which ended in lung transplantation. Phenotypically, the case of study follows a molecular pattern HHT-like. Therefore, molecular biology and cellular functional analysis has been performed in primary endothelial cells (ECs) isolated from the explanted lung. The findings revealed a loss of functionality in lung endothelial tissue and a stimulation of endothelial to mesenchymal transition. Understanding the molecular basis of this transition could potentially offer new therapeutic strategies to delay lung transplantation in severe cases.
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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