Genetic Analysis of the beta Subunit of the Epithelial Na+ Channel in Essential Hypertension

• Published in: Hypertension (Dallas, Tex. 1979) Vol. 32; no. 1; pp. 129 - 137
• Main Authors: Persu, Alexandre, Barbry, Pascal, Bassilana, Frederic, Houot, Anne-Marie, Mengual, Raymond, Lazdunski, Michel, Corvol, Pierre, Jeunemaitre, Xavier
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Philadelphia, PA American Heart Association, Inc 01.07.1998; Hagerstown, MD Lippincott
• Subjects: Adult; Animals; Arterial hypertension. Arterial hypotension; Base Sequence; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Clinical manifestations. Epidemiology. Investigative techniques. Etiology; Epithelium - metabolism; Exons - genetics; Female; Genetic Variation; Humans; Hypertension - genetics; Hypertension - metabolism; Introns - genetics; Male; Medical sciences; Middle Aged; Molecular Sequence Data; Mutagenesis; Oocytes - metabolism; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Sodium - metabolism; Sodium Channels - genetics; Sodium Channels - metabolism; Xenopus laevis; Human; Hypertension; Family study; Pathogenesis; Genetic variant; Beta-Peptide chain; Negroid; Cardiovascular disease; Exploration; Ionic channel; Epithelium; Genetic determinism; Biological activity; Ethnic group; Genetic disease; Gene; Sodium ion; Genetics; Mutation; Molecular biology; Caucasoid; Comparative study

Mutations of the last exon of the beta subunit of the amiloride-sensitive epithelial Na channel (beta ENaC) can lead to Liddle's syndrome, a rare monogenic form of hypertension. The objective of this study was to test whether more subtle changes of beta ENaC could be implicated in essential hyp...