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Titolo:
Lack of mutations of type 1 11 beta-hydroxysteroid dehydrogenase gene in patients with abdominal obesity
Autore:
Caramelli, E; Strippoli, P; Di Giacomi, T; Tietz, C; Carinci, P; Pasquali, R;
Indirizzi:
Inst Histol & Gen Embriol, Bologna, Italy Inst Histol & Gen Embriol Bologna Italy l & Gen Embriol, Bologna, Italy Ctr Genet Mol Fondaz Carisbo, Bologna, Italy Ctr Genet Mol Fondaz CarisboBologna Italy ndaz Carisbo, Bologna, Italy Univ Bologna, S Orsola M Malpighi Hosp, Dept Internal Med & Gastroenterol,Endocrine Unit, Bologna, Italy Univ Bologna Bologna Italy Gastroenterol,Endocrine Unit, Bologna, Italy
Titolo Testata:
ENDOCRINE RESEARCH
fascicolo: 1-2, volume: 27, anno: 2001,
pagine: 47 - 61
SICI:
0743-5800(2001)27:1-2<47:LOMOT1>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
BODY-FAT DISTRIBUTION; APPARENT MINERALOCORTICOID EXCESS; PITUITARY-ADRENAL AXIS; TISSUE DISTRIBUTION; CHROMOSOMAL LOCALIZATION; PREMENOPAUSAL WOMEN; CORTISOL; EXTRACTION; DEFICIENCY; SECRETION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Caramelli, E Ist Istol & Embriol Gen, Via Belmeloro 8, I-40126 Bologna, Italy Ist Istol & Embriol Gen Via Belmeloro 8 Bologna Italy I-40126
Citazione:
E. Caramelli et al., "Lack of mutations of type 1 11 beta-hydroxysteroid dehydrogenase gene in patients with abdominal obesity", ENDOCRINE R, 27(1-2), 2001, pp. 47-61

Abstract

There is increasing evidence that in human obesity, particularly the abdominal phenotype, the activity of the hypothalamic-pituitary-adrenal (HPA) axis is disregulated. At least two distinct alterations have been reported: one is characterized by several neuroendocrine abnormalities and hyperresponsiveness of the HPA axis to different neuropeptides, the other is characterized by elevated cortisol traffic and probably by supranormal cortisol production. The 11 beta -hydroxysteroid dehydrogenase (11 beta -HSD) enzymes interconvert cortisol and cortisone in human. Two different isoforms have been identified. A possible modification of the activity of the enzyme 11 beta-HSD1 in subjects with abdominal obesity has been described in the literature. We decided to test the hypothesis that mutated isoforms of type 11 beta -HSD1 protein could be responsible for alterations of cortisol metabolismin patients with abdominal obesity. A mutational screening of the whole coding sequence and exon-flanking regions of the 11 beta -HSD1 gene has been performed in 8 patients. The main results of our study are the exclusion ofa common association of 11 beta -HSD1 mutations to obesity and the identification of two novel allelic variants for the gene 11 beta -HSD1 in the Italian population, not previously described in any database.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/07/18 alle ore 23:59:46