Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex

Blood. 2002 Jul 15;100(2):501-8. doi: 10.1182/blood-2001-12-0361.

Abstract

The 558-565 loop region in the A2 subunit of factor (F) VIIIa forms a direct interface with FIXa. We have expressed and purified B-domainless FVIII (FVIII(WT)) and B-domainless FVIII containing the hemophilia A-associated mutations Ser558Phe, Val559Ala, Asp560Ala, Gln565Arg, and the activated protein C cleavage site mutant Arg562Ala. Titration of FVIIIa in FXa generation assays showed that the mutant and wild-type proteins had similar functional affinities for FIXa (dissociation constant [K(d)] values approximately 5 nM-20 nM and approximately 100 nM-250 nM in the presence and absence of phospholipid, respectively). The catalytic activities of the factor Xase complex composed of the hemophilia A-associated FVIII species were markedly reduced both in the presence and absence of phospholipid. FVIII(WT) and FVIII(Arg562Ala) showed catalytic rate constant (k(cat)) values of approximately 60 minute(-1) in the presence of phospholipid, whereas the hemophilia A-associated mutants showed k(cat) values ranging from 3.3 minute(-1) to 7.5 minute(-1). In the absence of phospholipid, all k(cat) values were reduced but FVIII(WT) and FVIII(Arg562Ala) retained higher activities as compared with the hemophilic mutant FVIII forms. Fluorescence anisotropy experiments using fluorescein-modified FIXa confirmed that all FVIII forms interacted with FIXa. However, the presence of factor X yielded minimal increases in anisotropy observed with the mutant factor VIII forms, consistent with their reduced activity. These results show that residues within the 558-565 loop are critical in modulating FIXa enzymatic activity but do not contribute significantly to the affinity of FVIIIa for FIXa.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Catalysis
  • Cysteine Endopeptidases / genetics
  • Cysteine Endopeptidases / metabolism*
  • Factor IXa / metabolism
  • Factor VIIIa / chemistry
  • Factor VIIIa / genetics*
  • Factor VIIIa / metabolism
  • Fluorescence Polarization
  • Hemophilia A / blood
  • Hemophilia A / enzymology
  • Hemophilia A / genetics*
  • Humans
  • Kinetics
  • Mutation*
  • Neoplasm Proteins*
  • Protein Binding
  • Protein Structure, Tertiary
  • Protein Subunits

Substances

  • Neoplasm Proteins
  • Protein Subunits
  • Factor VIIIa
  • Factor IXa
  • Cysteine Endopeptidases
  • cancer procoagulant