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Titolo:
ISOLATED ALDOSTERONE SYNTHASE DEFICIENCY CAUSED BY SIMULTANEOUS E198DAND V386A MUTATIONS IN THE CYP11B2 GENE
Autore:
PORTRATDOYEN S; TOURNIAIRE J; RICHARD O; MULATERO P; AUPETITFAISANT B; CURNOW KM; PASCOE L; MOREL Y;
Indirizzi:
HOP DEBROUSSE,INSERM U329,LAB BIOCHIM ENDOCRINIENNE & MOL,29 RUE SOEUR BOUVIER F-69322 LYON 05 FRANCE HOP DEBROUSSE,INSERM U329,LAB BIOCHIM ENDOCRINIENNE & MOL F-69322 LYON 05 FRANCE UNIV LYON,INSERM U329,LAB BIOCHIM ENDOCRINIENNE & MOL F-69322 LYON 05FRANCE HOP ANTIQUAILLE,CLIN ENDOCRINOL F-69321 LYON 05 FRANCE HOP NORD,DEPT PEDIAT F-42055 ST ETIENNE ROUVRA FRANCE COLL FRANCE,INSERM U36 F-75005 PARIS FRANCE CHU PITIE SALPETRIERE,LAB ETUD MINERALOCORTICOIDES F-75634 PARIS FRANCE
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 11, volume: 83, anno: 1998,
pagine: 4156 - 4161
SICI:
0021-972X(1998)83:11<4156:IASDCB>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; CONGENITAL ADRENAL-HYPERPLASIA; METHYLOXIDASE-II DEFICIENCY; 2 INBORN-ERRORS; BIOCHEMICAL PHENOTYPES; HUMAN ADRENODOXIN; POINT MUTATIONS; BIOSYNTHESIS; CLONING; DISORDERS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
S. Portratdoyen et al., "ISOLATED ALDOSTERONE SYNTHASE DEFICIENCY CAUSED BY SIMULTANEOUS E198DAND V386A MUTATIONS IN THE CYP11B2 GENE", The Journal of clinical endocrinology and metabolism, 83(11), 1998, pp. 4156-4161

Abstract

Isolated deficiencies in aldosterone biosynthesis are caused by mutations in the CYP11B2 (aldosterone synthase) gene. Patients with this deficiency have impaired aldosterone synthesis, exhibit increased plasmarenin activity, secrete increased amounts of the steroid precursors DOG, corticosterone, and 18OHDOC, and are subject to salt wasting and poor growth. Two forms are generally distinguished. The first, corticosterone methyloxidase type I (CMO I or type 1 deficiency), is characterized by no detectable aldosterone secretion, a low or normal secretionof the steroid 18OHB, and are always found to have mutations that completely inactivate the encoded CYP11B2 enzyme. The second form (CMO IIor type 2 deficiency) may have low to normal levels of aldosterone, but at the expense of greatly increased secretion of its immediate precursor 18OHB. These patients usually have a CYP11B2 enzyme with some residual enzymatic activity especially 11 beta-hydroxylase activity. We have studied two twins with an isolated aldosterone synthase activity who have a clinical profile typical of the type 1 deficiency. Their CYP11B2 genes are homozygous for three sequence changes, R173K, E198D, and V386A. In transfection assays these substitutions individually havemodest effects on the encoded enzyme, but when found together they result in an enzyme with a decreased 11 beta-hydroxylase activity, a large decrease of 18-hydroxylase activity, and no detectable 18-oxidase activity. This residual activity is more typical of that observed in patients classified as having CMO II deficiency, rather than CMO I deficiency, where no activity is detectable. This disparity between the CYP11B2 enzyme with residual activity and a clinical phenotypic typical of the type 1 deficiency, suggests that phenotype genotype relationships are not yet fully understood.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 09:06:08