Molecular analysis of estrogen receptor alpha and beta in lupus patients

Autor: C. E. Sekeris, P. G. Vlachoyiannopoulos, Paraskevi Moutsatsou, H. M. Moutsopoulos, Eva Kassi
Rok vydání: 2001
Předmět:
Zdroj: European Journal of Clinical Investigation. 31:86-93
ISSN: 0014-2972
DOI: 10.1046/j.1365-2362.2001.00762.x
Popis: Background In female patients with systemic lupus erythematosus (SLE), we identified estrogen receptor ERα, ERβ and ERα variant transcripts in peripheral blood mononuclear cells (PBMC). Exon 1 and 2 of ERα gene was subjected to mutation analysis to assess whether possible nucleotide alterations are linked to the disease. Methods The whole coding sequence of ERα was analysed by reverse transcription polymerase chain reaction (RT-PCR) and cDNA sequencing in PBMC prepared from 19 SLE patients and 12 healthy females. ERα exon 1 and exon 2 were subjected to mutation analysis using DNA isolated from whole blood of 21 SLE patients and 29 healthy females. The aminoterminal coding sequence of ERβ was also analysed by RT-PCR. Results Wild type ERα and ERα splicing variants with deletions in exons 2, 5 and 7 were detected both in healthy individuals and in SLE patients, with no qualitative difference in their expression among the two populations. In ERα exon 1, the polymorphisms identified codon 10 and codon 87, both in patients and in healthy individuals who were not associated with the disease. No other mutations were present in ERα exon 1 or ERα exon 2 in all subjects studied. ERβ was expressed in both populations. Conclusion: PBMC of SLE patients express wild type ERα, ERβ and the same ERα variants as do healthy individuals. Genetic alterations in exon 1 and exon 2 of the ERα gene are not linked with SLE disease.
Databáze: OpenAIRE
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