RT Journal Article
T1 Effect of a truncated mutant factor V on hemostatic function and embryonic development in mice
A1 Miguel Batuecas, Andrea
A1 De Pablo Moreno, Juan Andrés
A1 Porras, Néstor
A1 Bermejo Álvarez, Pablo
A1 González-Brusi, Leopoldo
A1 Serrano, Luis J.
A1 De Pablo-Moreno, Javier M.
A1 Sánchez, María José
A1 García-Arranz, Mariano
A1 Rodríguez Bertos, Antonio Manuel
A1 Chumappumkal, Bilgimol Joseph
A1 Revuelta Rueda, Luis
A1 Liras Martín, Antonio
AB 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.
PB Nature Research
YR 2026
FD 2026
LK https://hdl.handle.net/20.500.14352/133937
UL https://hdl.handle.net/20.500.14352/133937
LA eng
NO Miguel-Batuecas, A., De Pablo-Moreno, J. A., Porras, N., Bermejo-Álvarez, P., González-Brusi, L., Serrano, L. J., De Pablo-Moreno, J. M., Sánchez, M. J., García-Arranz, M., Rodríguez-Bertos, A., Chumappumkal Joseph, B., Revuelta, L., & Liras, A. (2026). Effect of a truncated mutant factor V on hemostatic function and embryonic development in mice. Scientific reports, 16(1), 8460. https://doi.org/10.1038/s41598-026-38387-w
NO Author contributionsA.L. project administration and coordination, A.L., P.B.A., L.R. supervision, A.L., J.A.D.P.M., N.P., P.B.A., L.J.S. conceptualization, A.L., P.B.A., M.J.S., M.G.A., L.R. resources, A.L., P.B.A., M.G.A., A.R.B., L.R. funding acquisition, A.L., A.M.B., J.A.D.P.M., N.P., P.B.A., L.J.S., J.M.D.P.M., M.G.A., A.R.B. methodology, A.L., A.M.B., J.A.D.P.M., P.B.A., L.G.B., L.J.S., J.M.D.P.M., M.J.S., M.G.A., A.R.B., L.R., B.C.J. investigation, A.L., A.M.B., J.A.D.P.M., M.G.A., B.C.J. formal analysis and data curation and interpretation, A.L., A.M.B., J.A.D.P.M., N.P., P.B.A., L.G.B., B.C.J. writing—Original draft, A.L., A.M.B., J.A.D.P.M., N.P., P.B.A., M.G.A., L.R., B.C.J. writing— Review & Editing.
NO Universidad Complutense de Madrid
NO Banco Santander
NO Ministerio de Ciencia e Innovación (España)
NO Comunidad de Madrid
NO Junta de Andalucía
NO Centro Andaluz de Biología del Desarrollo
DS Docta Complutense
RD 19 mar 2026