Purification and characterization of two functionally distinct forms of C1 inhibitor from a patient with angioedema

Clin Exp Immunol. 1981 Aug;45(2):261-70.

Abstract

A minority of patients with hereditary angioedema (HAE) have normal concentrations of a dysfunctional C1 inhibitor protein (C1INH) in their plasmas. We purified C1INH from the plasmas of one such patient before and during treatment with the anabolic steroid stanozolol. Both the pretreatment plasma and plasma obtained during stanozolol treatment contained varying amounts of two extremely similar C1INH proteins that were functionally distinct. The pretreatment plasma contained primarily (94%) dysfunctional C1INH that did not inactivate or complex with either purified C1s, activated Hageman factor, or kallikrein and small amounts (6%) of functionally normal C1INH. Stanozolol treatment increased the plasma concentrations of both of these proteins as well as the proportion (23%) of functional C1INH in the plasma. The purified dysfunctional and functional C1INHs had identical or nearly identical molecular sizes, charges, amino acid compositions, and amino sugar contents, and could not be distinguished physicochemically from each other or from normal C1INH. From these studies of purified C1INH proteins we concluded that HAE associated with dysfunctional C1INH is due to a defect at the structural locus for one C1INH gene and that both the dysfunctional C1INH gene and the normal C1INH gene products are present in the plasma of the affected subject. Treatment with stanozolol comparably increased the synthesis of both C1INH proteins. The disproportionate rise in the level of the normal C1INH protein is consistent with the view that it is more rapidly catabolized as a consequence of its interaction with the proteases it inactivates.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acids / analysis
  • Angioedema / drug therapy
  • Angioedema / genetics
  • Angioedema / immunology*
  • Complement Activating Enzymes / antagonists & inhibitors
  • Complement C1 Inactivator Proteins / isolation & purification*
  • Complement C1s
  • Factor XII / antagonists & inhibitors
  • Female
  • Humans
  • Kallikreins / antagonists & inhibitors
  • Stanozolol / therapeutic use

Substances

  • Amino Acids
  • Complement C1 Inactivator Proteins
  • Stanozolol
  • Factor XII
  • Complement Activating Enzymes
  • Kallikreins
  • Complement C1s