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Aristizabal Prada, Elke Tatjana; Castellano, Isabella; Susnik, Eva; Yang, Yuhong; Meyer, Lucie S.; Tetti, Martina; Beuschlein, Felix; Reincke, Martin and Williams, Tracy A. (2018): Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism. In: International journal of molecular sciences, Vol. 19, No. 4, E1124 [PDF, 19MB]

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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.

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