Identification of two point mutations associated with inherited antithrombin deficiency.

ABSTRACT:

Background

Antithrombin (AT) is a serine protease inhibitor which exerts its anticoagulant effect through binding to serine residues in the active centers of procoagulant serine proteases. Its deficiency is associated with increased risk of venous thrombosis. We aim to investigate the pathogenic mechanism of two natural mutants (W221C and M284R) in inherited AT deficiency.

Methods

We analyzed 9 unrelated patients with inherited AT deficiency by extracting peripheral blood DNA and sequencing the SERPINC1 gene after amplification by polymerase chain reaction. Enzyme-linked immunosorbent assay and heparin affinity chromatography were used to assess AT secretion and purification efficiency. The mutant AT models were evaluated via computational simulations.

Results

Among t

SUBMITTER: Lai SW 

PROVIDER: S-EPMC11613604 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature