Glucocorticoid-suppressible hyperaldosteronism: Effects of crossover site and parental origin of chimaeric gene on phenotypic expression

A. Jamieson, L. Slutsker, G. C. Inglis, R. Fraser, P. C. White, J. M C Connell

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

1. Genetic analysis of five kindreds with glucocorticoid-suppressible hyperaldosteronism, four of whom had not been subjected to any previous genetic analysis, revealed three different crossover breakpoints within the five kindreds clustered in the exon 3-intron 4 region of the chimaeric gene. The site of the crossover point had no effect on blood pressure within the kindreds studied. 2. The gene causing glucocorticoid-suppressible hyperaldosteronism was in strong linkage disequilibrium with an allele of a newly described restriction enzyme polymorphism of the aldosterone synthase gene promoter region, suggesting a possible role for this allele in the development of the chimaeric gene. 3. A novel observation on subjects inheriting glucocorticoid-suppressible hyperaldosteronism from their mothers showed that they had significantly higher plasma aldosterone concentrations and mean arterial blood pressures than those inheriting glucocorticoid-suppressible hyperaldosteronism from their fathers. 4. These results raise the possibility that chronic exposure in utero to elevated plasma aldosterone concentrations may result in the permanent programming of mineralocorticoid-dependent blood pressure regulatory mechanisms, which is amplified in later life by the elevated plasma aldosterone concentrations found in glucocorticoid-suppressible hyperaldosteronism.

Original languageEnglish (US)
Pages (from-to)563-570
Number of pages8
JournalClinical science
Volume88
Issue number5
DOIs
StatePublished - Jan 1 1995

Keywords

  • Hereditary
  • Hyperaldosteronism
  • Hypertension

ASJC Scopus subject areas

  • Medicine(all)

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