Identification of steroid ligands able to inactivate the mineralocorticoid receptor harboring the S810L mutation responsible for a severe form of hypertension

Mol Cell Endocrinol. 2004 Mar 31;217(1-2):181-8. doi: 10.1016/j.mce.2003.10.053.

Abstract

The ability of steroid ligands to inactivate the human mineralocorticoid receptor (MR(WT)) has been shown to be due to their inability to contact Asn770, a residue of the H3 helix involved in stabilizing contacts with the H11-H12 loop region. However, all steroid ligands that display antagonist properties when bound to MR(WT), have been shown to activate a mutant receptor (MR(L810)) associated with a severe form of hypertension. Biochemical studies revealed that S810L mutation induces a change in the receptor conformation and increases the steroid-receptor complexes stability. From a three-dimensional model of the MR ligand-binding domain, it is likely that the S810L mutation causes a steric hindrance between the side chains of Leu810 (H5) and Gln776 (H3) that provokes a bending of the H3 helix. As a consequence, the positioning of MR(WT) antagonists within the ligand-binding cavity is modified in such a way that they can activate the mutant MR(L810). The results from biochemical studies also revealed that 5alpha-pregnan-20-one, 4,9-androstadiene-3,17-dione and RU486, unable to bind MR(WT), acted as potent MR(L810) antagonists.

MeSH terms

  • Amino Acid Substitution
  • Crystallography, X-Ray
  • Humans
  • Hypertension / congenital
  • Hypertension / genetics
  • Hypertension / metabolism*
  • Leucine / genetics
  • Ligands
  • Mineralocorticoid Receptor Antagonists*
  • Mutation
  • Protein Binding / genetics
  • Protein Conformation
  • Receptors, Mineralocorticoid / chemistry
  • Receptors, Mineralocorticoid / genetics
  • Serine / genetics
  • Steroids / chemistry*
  • Steroids / metabolism
  • Steroids / pharmacology*
  • Structure-Activity Relationship

Substances

  • Ligands
  • Mineralocorticoid Receptor Antagonists
  • Receptors, Mineralocorticoid
  • Steroids
  • Serine
  • Leucine