Key result
Factor V mutations A2086D and W1920R presented defects in APC-mediated FVa inactivation and FV cofactor activity, and impaired inhibition of tissue factor-induced coagulation.
Why the study?
The detailed mechanisms linking FV-W1920R and FV-A2086D mutations to thrombophilia and deep vein thrombosis remain to be fully explored.
Population
Full-length wild-type and mutated FV prepared using stable human cell lines (HEK293T)
Comparison
Mutated FV (FV-A2086D and FV-W1920R) vs wild-type FV
Design
In vitro experimental study
Authors
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Suggests novel thrombophilia mechanism in models; leaves open human prevalence, penetrance, and screening utility.
The FV-A2086D and FV-W1920R mutations cause congenital thrombophilia by impairing APC-mediated inactivation and failing to inhibit tissue factor-induced coagulation.
Shimonishi et al. (2023) studied Deep vein thrombosis / Thrombophilia. Factor V mutations (FV-W1920R and FV-A2086D) vs. Wild-type Factor V was evaluated on APC-catalyzed inactivation, APC cofactor activity, and inhibition of TF-induced thrombin generation. Factor V mutations A2086D and W1920R presented defects in APC-mediated FVa inactivation and FV cofactor activity, and impaired inhibition of tissue factor-induced coagulation.
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