Περίληψη:
Primary aldosteronism (PA), a condition characterized by autonomous aldosterone hy-persecretion, constitutes the most common cause of secondary hypertension. Over the last decade, major breakthroughs have been made in the field of genetics underpinning PA. The advent and wide application of Next Generation Sequencing (NGS) technology led to the identification of several somatic and germline mutations associated with sporadic and familial forms of PA. Somatic mutations in ion-channel genes that participate in aldosterone biosynthesis, including KCNJ5, CACNA1D, ATP1A1, and ATP2B3, have been implicated in the development of aldosterone-producing adenomas (APAs). On the other hand, germline variants in CLCN2, KCNJ5, CACNA1H, and CACNA1D genes have been implicated in the pathogenesis of the familial forms of PA, FH-II, FH-III, and F-IV, as well as PA associated with seizures and neurological abnormalities. However, recent studies have shown that the prevalence of PA is higher than previously thought, indicating the need for an improvement of our diagnostic tools. Further research is required to recognize mild forms of PA and to investigate the underlying molecular mechanisms. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
Συγγραφείς:
Mourtzi, N.
Sertedaki, A.
Markou, A.
Piaditis, G.P.
Charmandari, E.
Λέξεις-κλειδιά:
armadillo repeat containing protein 5; ATPA1 protein; ATPA2B3 protein; beta catenin; CACNA1D protein; CLCN2 protein; cyclic AMP dependent protein kinase catalytic subunit; inwardly rectifying potassium channel; P type ATPase; potassium inwardly rectifying channel subfamily J member 5; protein; unclassified drug; voltage gated calcium channel; aldosterone; ion channel, familial disease; familial hyperaldosteronism type I; familial hyperaldosteronism type II; familial hyperaldosteronism type III; familial hyperaldosteronism type IV; gene mutation; heredity; human; prevalence; primary aldosteronism with seizures and neurological abnormalities; primary hyperaldosteronism; Review; biosynthesis; genetics; germline mutation; high throughput sequencing; hyperaldosteronism; hypertension; mutation, Aldosterone; Germ-Line Mutation; High-Throughput Nucleotide Sequencing; Humans; Hyperaldosteronism; Hypertension; Ion Channels; Mutation
