Analysis of the S810L point mutation of the mineralocorticoid receptor in patients with pregnancy-induced hypertension

Hypertens Pregnancy. 2004;23(1):113-9. doi: 10.1081/PRG-120028293.

Abstract

Objective: A missense mutation at codon 810 (Ser --> Leu) of the mineralocorticoid receptor was recently observed in a family with early manifestation of hypertension. Our objective was to determine if this mineralocorticoid receptor alterations is prevalent in patients with pregnancy-induced hypertension.

Methods: Thirty-eight women with hypertension during pregnancy were tested for the mineralocorticoid receptor gene mutation. DNA was extracted out of blood leucocytes. PCR and automated DNA sequencing were used to analyze exon 6 for the S810L missense mutation. Anamnestical data concerning cardiovascular risk factors and family history were evaluated with a questionnaire. Pregnancy course and outcome were documented in all cases.

Results: In 33 patients with pregnancy-induced hypertension and in five patients with exacerbation of preexisting hypertension in pregnancy no point mutations were found at codon 810 in exon 6.

Conclusions: Our data suggest that the S810L missense mutation of the mineralocorticoid receptor does not play a major role in the etiology of pregnancy-induced hypertension in a German /Turkish population.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon / genetics
  • Exons / genetics
  • Female
  • Humans
  • Hypertension / genetics*
  • Maternal Welfare
  • Mutation, Missense / genetics
  • Point Mutation / genetics
  • Pregnancy
  • Pregnancy Complications, Cardiovascular / etiology*
  • Probability Theory
  • Receptors, Mineralocorticoid / genetics*

Substances

  • Codon
  • Receptors, Mineralocorticoid