Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

Détails

ID Serval
serval:BIB_EFE946B9B0CD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome
Périodique
Nature Genetics
Auteur(s)
Hansson  J. H., Nelson-Williams  C., Suzuki  H., Schild  L., Shimkets  R., Lu  Y., Canessa  C., Iwasaki  T., Rossier  B., Lifton  R. P.
ISSN
1061-4036
Statut éditorial
Publié
Date de publication
09/1995
Peer-reviewed
Oui
Volume
11
Numéro
1
Pages
76-82
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Sep
Résumé
Sensitivity of blood pressure to dietary salt is a common feature in subjects with hypertension. These features are exemplified by the mendelian disorder, Liddle's syndrome, previously shown to arise from constitutive activation of the renal epithelial sodium channel due to mutation in the beta subunit of this channel. We now demonstrate that this disease can also result from a mutation truncating the carboxy terminus of the gamma subunit of this channel; this truncated subunit also activates channel activity. These findings demonstrate genetic heterogeneity of Liddle's syndrome, indicate independent roles of beta and gamma subunits in the negative regulation of channel activity, and identify a new gene in which mutation causes a salt-sensitive form of human hypertension.
Mots-clé
Adolescent Adult Aldosterone/deficiency Alleles Amino Acid Sequence Animals Base Sequence Codon/genetics Epithelial Sodium Channel Gene Expression Regulation Genes Genes, Dominant Humans Hypertension/chemically induced/classification/*genetics/metabolism Hypokalemia/genetics Ion Channel Gating/*genetics Kidney Tubules, Proximal/metabolism Middle Aged Molecular Sequence Data Mutagenesis, Site-Directed Mutation Oocytes/metabolism Pedigree Rats Recombinant Fusion Proteins/metabolism Renin/deficiency Sequence Alignment Sequence Homology, Amino Acid Sodium Channels/deficiency/*genetics/physiology Sodium, Dietary/*adverse effects Syndrome Terminator Regions (Genetics) Xenopus laevis
Pubmed
Web of science
Création de la notice
24/01/2008 14:01
Dernière modification de la notice
20/08/2019 17:17
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