Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein

Blood. 2011 Mar 17;117(11):3190-8. doi: 10.1182/blood-2010-09-307074. Epub 2011 Jan 7.

Abstract

A point mutation leading to amino acid substitution N1922S in the A3 domain of factor VIII (fVIII) results in moderate to severe hemophilia A. A heterologous expression system comparing N1922S-fVIII and wild-type fVIII (wt-fVIII) demonstrated similar specific coagulant activities but poor secretion of N1922S-fVIII. Immunocytochemical analysis revealed that intracellular levels of N1922S-fVIII were similar to those of wt-fVIII. The specific activity of intracellular N1922S-fVIII was 10% of that of wt-fVIII, indicating the presence of large amounts of a nonfunctional N1922S-fVIII-folding intermediate. wt-fVIII colocalized with both endoplasmic reticulum (ER)- and Golgi-resident proteins. In contrast, N1922S-fVIII colocalized only with ER-resident proteins, indicating a block in transit from the ER to the Golgi. A panel of conformation-dependent monoclonal antibodies was used to determine native or nonnative folding of N1922S-fVIII. Intracellular N1922S-fVIII but not secreted N1922S-fVIII displayed abnormal folding in the A3 and C1 domains, indicating that the A1, A2, and C2 domains fold independently into antigenically intact tertiary structures, but that folding is stalled in the mutant A3 and its contiguous C1 domain. In summary, the N1922S substitution results in poor secretion of a functional protein, and the domain-specific defect in folding and intracellular trafficking of N1922S-fVIII is a novel mechanism for secretion defects leading to hemophilia A.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics*
  • Animals
  • Antibodies / pharmacology
  • Antibody Specificity / drug effects
  • Cell Line
  • Extracellular Space / drug effects
  • Extracellular Space / metabolism
  • Factor VIII / chemistry*
  • Factor VIII / metabolism*
  • Hemophilia A / genetics*
  • Humans
  • Intracellular Space / drug effects
  • Intracellular Space / metabolism
  • Mutant Proteins / metabolism
  • Protein Binding / drug effects
  • Protein Conformation
  • Protein Folding* / drug effects
  • Protein Structure, Tertiary
  • Subcellular Fractions / drug effects
  • Subcellular Fractions / metabolism

Substances

  • Antibodies
  • Mutant Proteins
  • Factor VIII