
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.
Item Type: | Journal article |
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EU Funded Grant Agreement Number: | 694913 |
EU Projects: | Horizon 2020 > ERC Grants > ERC Advanced Grant > ERC Grant 694913: PAPA - Pathophysiology of Primary Aldosteronism |
Form of publication: | 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 |
Faculties: | Medicine |
Subjects: | 600 Technology > 610 Medicine and health |
URN: | urn:nbn:de:bvb:19-epub-61652-5 |
ISSN: | 1422-0067 |
Language: | English |
Item ID: | 61652 |
Date Deposited: | 12. Apr 2019, 11:32 |
Last Modified: | 04. Nov 2020, 13:39 |