Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients
Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients
We recently identified two hemophilia B patients who carried Gly-317 to Arg (FIX-G317R) or Gly-317 to Glu (FIX-G317E) substitutions in their FIX gene. The former mutation caused severe and the latter moderate bleeding in afflicted patients. To understand the molecular basis for the variable clinical manifestation of Gly-317 mutations, we prepared recombinant G317R and G317E derivatives of FIX and compared their kinetic properties to those of recombinant wild-type FIX in appropriate assay systems. Both physiological activators, factor XIa and extrinsic Tenase (factor VIIa-tissue factor), activated both zymogen variants with an ∼1.5-fold elevated K(m); however, extrinsic Tenase activated FIX-G317E with an ∼2-fold improved k(cat). By contrast to zymogen activation, the catalytic activities of both FIXa-G317R and FIXa-G317E enzymes toward the natural substrate, factor X, were dramatically (>4 orders of magnitude) impaired, but their apparent affinity for interaction with factor VIIIa was only slightly (<2-fold) decreased. Further studies revealed that the reactivity of FIXa-G317R and FIXa-G317E with antithrombin has been impaired 10- and 13-fold, respectively, in the absence and 166- and 500-fold, respectively, in the presence of pentasaccharide. As expected, the clotting activities of FIX variants could not be measured by the aPTT assay. These results implicate a critical role for Gly-317 in maintaining normal catalytic function for FIX/FIXa in the clotting cascade. The results further suggest that improved k(cat) of FIX-G317E activation in the extrinsic pathway together with dramatically impaired reactivity of FIXa-G317E with antithrombin may account for the less severe bleeding phenotype of a hemophilia B patient carrying the FIX-G317E mutation.
- Shanghai Jiao Tong University China (People's Republic of)
- Ruijin Hospital China (People's Republic of)
- University of Mary United States
- Saint Louis University United States
Male, Enzyme Precursors, Glycine, Hemorrhage, Hemophilia B, Factor XIa, Recombinant Proteins, Neoplasm Proteins, Enzyme Activation, Factor IX, Cysteine Endopeptidases, Kinetics, HEK293 Cells, Amino Acid Substitution, Factor X, Mutation, Mutagenesis, Site-Directed, Humans, Mutant Proteins, Factor VIIIa
Male, Enzyme Precursors, Glycine, Hemorrhage, Hemophilia B, Factor XIa, Recombinant Proteins, Neoplasm Proteins, Enzyme Activation, Factor IX, Cysteine Endopeptidases, Kinetics, HEK293 Cells, Amino Acid Substitution, Factor X, Mutation, Mutagenesis, Site-Directed, Humans, Mutant Proteins, Factor VIIIa
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