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Selected Publication:
REIMANNWEBER, A; HORWATH, J; HOGLINGER, O; BINDER, A; KOTANKO, P; KENNER, T; SKRABAL, F.
CHARACTERIZATION OF DIFFERENT ALLELES OF THE BETA-2-ADRENOCEPTOR
NIEREN HOCHDRUCK. 1994; 23(5): 246-249.
Web of Science
- Co-authors Med Uni Graz
- Binder Alexander
- Horwath-Winter Jutta
- Kenner Thomas
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- Abstract:
- Healthy subjects, who show an increasing blood pressure under sodium chloride enriched diet, a behaviour known as salt sensitivity, express only half of the amount of beta-2-adrenergic receptors on cultured fibroblasts compared to salt resistant subjects (65 +/- 12.7 fmol/mg, n = 7 vs. 173 +/- 14.8 fmol/mg, n = 13, p <0.001). Cultured fibroblasts of salt-sensitive subjects also show a significantly reduced isoproterenol stimulated cAMP yield (r = 0.62, p <0.01, n = 20). There was found a linear correlation in beta-receptor density and amount of cAMP (r = 0.75, p <0.001, n = 19). Measurements of receptor density of patients suffering from essential hypertension also result in reduced receptor densities compared to healthy subjects matched with age, sex and body mass index. A malfunction of transcription as possible reason of lower expression of beta-receptors on fibroblasts was excluded due to equivalent amounts of beta-2 structure gene mRNA in cultures of fibroblasts with lower as well as normal receptor densities. The gene sequence of the beta adrenoceptor structure gene was also analyzed. Salt sensitive persons showed a higher incidence of a mutation at base position 1309 resulting in an exchange of the corresponding amino acid, which is shifted from glycine to arginine. This mutation was always associated with two silent mutations situated at position 1515 and 1786. Some salt sensitives also showed a third silent mutation at position 2316 and others showed an additional one at position 2502. The distribution of the allele with the mutation at position 1309 was studied with 49 randomized subjects. The following distribution was found: 7 subjects were homozygote in the mutation, 19 were heterozygote and 23 were homozygote in the wild type. This distribution accords to the Hardy-Weinberg equilibrium. The frequency of the mutated allele in the population is 33 per cent. The allele carrying the mutation at base position 1309 along with the two silent mutations described above showed an obvious modification in the secondary structure of the mRNA of the beta-2 receptor gene.
- Find related publications in this database (Keywords)
- BETA-2-ADRENERGIC RECEPTOR
- HYPERTENSION
- ALLELE