Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism

Aristizabal Prada, Elke Tatjana; Castellano, Isabella; Susnik, Eva; Yang, Yuhong; Meyer, Lucie S.; Tetti, Martina; Beuschlein, Felix; Reincke, Martin und Williams, Tracy A. (2018): Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism. In: International journal of molecular sciences, Bd. 19, Nr. 4, E1124

Abstract

Primary aldosteronism is the most common form of endocrine hypertension with a prevalence of 6% in the general population with hypertension. The genetic basis of the four familial forms of primary aldosteronism (familial hyperaldosteronism FH types I-IV) and the majority of sporadic unilateral aldosterone-producing adenomas has now been resolved. Familial forms of hyperaldosteronism are, however, rare. The sporadic forms of the disease prevail and these are usually caused by either a unilateral aldosterone-producing adenoma or bilateral adrenal hyperplasia. Aldosterone-producing adenomas frequently carry a causative somatic mutation in either of a number of genes with the KCNJ5 gene, encoding an inwardly rectifying potassium channel, a recurrent target harboring mutations at a prevalence of more than 40% worldwide. Other than genetic variations, gene expression profiling of aldosterone-producing adenomas has shed light on the genes and intracellular signalling pathways that may play a role in the pathogenesis and pathophysiology of these tumors.

• Dokumententyp: Zeitschriftenartikel
• EU Funded Grant Agreement Number: 694913
• EU-Projekte: Horizon 2020 > ERC Grants > ERC Advanced Grant > ERC Grant 694913: PAPA - Pathophysiology of Primary Aldosteronism
• Publikationsform: Publisher's Version
• Keywords: Aldosterone/metabolism; Familial Hyperaldosteronism; G Protein-Coupled Inwardly-Rectifying Potassium Channels/genetics; Gene Expression Profiling/methods; Gene Regulatory Networks;Genomics/methods; Humans;Hyperaldosteronism/genetics/metabolism; Mutation; aldosterone; aldosterone-producing adenoma; primary aldosteronism; transcriptome profiing
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1422-0067
• Sprache: Englisch