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Int. J. Mol. Sci. 2018, 19(4), 1124; https://doi.org/10.3390/ijms19041124

Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism

1
Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany
2
Division of Pathology, Department of Medical Sciences, University of Torino, 10124 Torino, Italy
3
Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, 10126 Torino, Italy
4
Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, UniversitätsSpital Zürich, CH-8091 Zurich, Switzerland
*
Author to whom correspondence should be addressed.
Received: 15 February 2018 / Revised: 4 April 2018 / Accepted: 6 April 2018 / Published: 9 April 2018
(This article belongs to the Special Issue Role of Genomics in the Management of Hypertension)
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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. View Full-Text
Keywords: primary aldosteronism; aldosterone; aldosterone-producing adenoma; transcriptome profiing primary aldosteronism; aldosterone; aldosterone-producing adenoma; transcriptome profiing
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Aristizabal Prada, E.T.; Castellano, I.; Sušnik, E.; Yang, Y.; Meyer, L.S.; Tetti, M.; Beuschlein, F.; Reincke, M.; Williams, T.A. Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism. Int. J. Mol. Sci. 2018, 19, 1124.

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