1. Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.
- Author
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Aristizabal Prada ET, Castellano I, Sušnik E, Yang Y, Meyer LS, Tetti M, Beuschlein F, Reincke M, and Williams TA
- Subjects
- Aldosterone metabolism, G Protein-Coupled Inwardly-Rectifying Potassium Channels genetics, Gene Regulatory Networks, Humans, Hyperaldosteronism metabolism, Mutation, Gene Expression Profiling methods, Genomics methods, Hyperaldosteronism genetics
- 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., Competing Interests: The authors declare no conflict of interest.
- Published
- 2018
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