title: Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights.
abstract: Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca(2+)-mediated cell signaling, transepithelial transport, cell motility and growth, volume regulation and cellular ionic content and acidification of lysosomal compartments. Ion channel dysfunction can cause endocrine disorders or endocrine-related manifestations, such as pseudohypoaldosteronism type 1, Liddle syndrome, Bartter syndrome, persistent hyperinsulinemic hypoglycemia of infancy, neonatal diabetes mellitus, cystic fibrosis, Dent's disease, hypomagnesemia with secondary hypocalcemia, nephrogenic diabetes insipidus and, the most recently genetically identified channelopathy, thyrotoxic hypokalemic periodic paralysis. This review briefly recapitulates the membrane action potential in endocrine cells and offers a short overview of known endocrine channelopathies with focus on recent progress regarding the pathophysiological mechanisms and functional genetic defects.
authors.affiliation: Laboratório de Endocrinologia Molecular e Translacional, Departamento de Medicina, Universidade Federal de São Paulo, Escola Paulista de Medicina, SP, Brazil.
authors.forename: Ana Luiza R
authors.initials: AL
authors.lastname: Rolim
authors.forename: Susan C
authors.initials: SC
authors.lastname: Lindsey
authors.forename: Ilda S
authors.initials: IS
authors.lastname: Kunii
authors.forename: Aline M
authors.initials: AM
authors.lastname: Fujikawa
authors.forename: Fernando A
authors.initials: FA
authors.lastname: Soares
authors.forename: Maria Izabel
authors.initials: MI
authors.lastname: Chiamolera
authors.forename: Rui M B
authors.initials: RM
authors.lastname: Maciel
authors.forename: Magnus R Dias da
authors.initials: MR
authors.lastname: Silva
mesh_terms: D053447:Channelopathies / Q000235:genetics / Q000503:physiopathology; D004700:Endocrine System Diseases / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D007473:Ion Channels / Q000235:genetics / Q000502:physiology
chemical_list: D007473:Ion Channels