Comparative Genomics and Transcriptome Profiling in Primary Aldosteronism.

Elke Tatjana Aristizabal Prada, Isabella Castellano, Eva Sušnik, Yuhong Yang, Lucie S Meyer, Martina Tetti, Felix Beuschlein, Martin Reincke, Tracy A Williams

Journal: International journal of molecular sciences 2018;19(4):1124

PMID: 29642543

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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 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.

Address: Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Division of Pathology, Department of Medical Sciences, University of Torino, 10124 Torino, Italy. [email protected].; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, 10126 Torino, Italy. [email protected].; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, UniversitätsSpital Zürich, CH-8091 Zurich, Switzerland. [email protected].; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Medizinische Klinik und Poliklinik IV, Klinikum der Universität, Ludwig-Maximilians-Universität München, 80336 Munich, Germany. [email protected].; Division of Internal Medicine and Hypertension, Department of Medical Sciences, University of Torino, 10126 Torino, Italy. [email protected].

DOI: 10.3390/ijms19041124

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MeSH Terms: Aldosterone, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Gene Expression Profiling, Gene Regulatory Networks, Genomics, Humans, Hyperaldosteronism, Mutation