%0 Journal Article
%A Miguel Batuecas, Andrea
%A De Pablo Moreno, Juan Andrés
%A Porras, Néstor
%A Bermejo Álvarez, Pablo
%A González-Brusi, Leopoldo
%A Serrano, Luis J.
%A De Pablo-Moreno, Javier M.
%A Sánchez, María José
%A García-Arranz, Mariano
%A Rodríguez Bertos, Antonio Manuel
%A Chumappumkal, Bilgimol Joseph
%A Revuelta Rueda, Luis
%A Liras Martín, Antonio
%T Effect of a truncated mutant factor V on hemostatic function and embryonic development in mice
%D 2026
%U https://hdl.handle.net/20.500.14352/133937
%X Factor V is an essential protein in the blood clotting process and plays a central role in secondary hemostasis. Its deficiency causes a rare inherited disorder characterized by episodes of severe bleeding, some of which can be life-threatening. Although previous studies have established that factor V is essential for normal embryonic development, its specific contribution to vascular maturation remains incompletely understood, factor V is believed to contribute to blood vessel stabilization and regulate angiogenesis through its interaction with thrombin. In a recent study, a CRISPR-engineered mouse model intended to produced a mild factor V deficiency disease, unexpectedly produced a frameshift mutation in the A3 domain, resulting in a truncated protein. Factor V levels in healthy embryonic mouse tissues were assessed to investigate its role at different developmental stages. The mutation markedly impaired viability, as homozygous mice exhibited a lethal phenotype with severe bleeding and perinatal death, along with impaired coagulation function. Histopathological and immunohistochemical analyses indicated a link between factor V deficiency, thrombin and α-smooth muscle actin, potentially affecting proangiogenic signaling and embryonic vascular formation. Factor V gene expression increased during late embryogenesis, underscoring its importance in vascular development and maturation. Overall, these findings are consistent with a role for factor V in stabilizing embryonic blood vessels and modulating thrombin-dependent angiogenesis, and add further detail on the developmental impact of its deficiency and the pathogenesis of congenital bleeding disorders.
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