title: The genetic basis of primary aldosteronism.
abstract: Primary aldosteronism is commonly regarded as largely sporadic, but both germline and somatic mutations are increasingly recognized as underlying the condition. Three germline mutations causing familial hyperaldosteronism have been described, dubbed FH I (due to a CYP11B1/CYP11B2 chimera), FH II (localized to chromosome 7p22, exact location of mutation[s] unknown to date), and FH III (reflecting a T158A mutation in the potassium channel subunit KCNJ5). Major contributions (FH I, FH III) have been by Lifton and his associates; more recently they have also described somatic mutations (G151R, L168R) in KCNJ5 in over a third of aldosterone-producing adenomas, with results confirmed, refined, and extended in a much larger study from Europe. These findings have sparked considerable interest, and over the next 12 months a number of additional reports can be confidently expected to throw light on both normal and abnormal adrenocortical zonation and the genesis of primary aldosteronism.
authors.affiliation: Prince Henry's Institute, P.O. Box 5152, Clayton, Victoria, 3168, Australia. john.funder@princehenrys.org
authors.forename: John W
authors.initials: JW
authors.lastname: Funder
mesh_terms: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D024683:Potassium Channels, Tandem Pore Domain / Q000235:genetics; D012307:Risk Factors
chemical_list: D051676:G Protein-Coupled Inwardly-Rectifying Potassium Channels; C484274:KCNJ5 protein, human; C498655:KCNK9 protein, human; D009419:Nerve Tissue Proteins; D024683:Potassium Channels, Tandem Pore Domain; C420132:potassium channel subfamily K member 3