Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism

Introduction: Primary aldosteronism (PA) is the most common cause of endocrine hypertension, mainly caused by aldosterone-producing adenomas or hyperplasia; understanding its pathophysiological background is important in order to provide ameliorative treatment strategies. Over the past several years...

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Autores principales: Ariadni Spyroglou, George P. Piaditis, Gregory Kaltsas, Krystallenia I. Alexandraki
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Publicado: MDPI AG 2021
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Acceso en línea:https://doaj.org/article/3022cd3b912f49498f9d2cec5fb9f9d9
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spelling oai:doaj.org-article:3022cd3b912f49498f9d2cec5fb9f9d92021-11-11T15:36:02ZTranscriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism10.3390/cancers132155822072-6694https://doaj.org/article/3022cd3b912f49498f9d2cec5fb9f9d92021-11-01T00:00:00Zhttps://www.mdpi.com/2072-6694/13/21/5582https://doaj.org/toc/2072-6694Introduction: Primary aldosteronism (PA) is the most common cause of endocrine hypertension, mainly caused by aldosterone-producing adenomas or hyperplasia; understanding its pathophysiological background is important in order to provide ameliorative treatment strategies. Over the past several years, significant progress has been documented in this field, in particular in the clarification of the genetic and molecular mechanisms responsible for the pathogenesis of aldosterone-producing adenomas (APAs). Methods: Systematic searches of the PubMed and Cochrane databases were performed for all human studies applying transcriptomic, epigenetic or metabolomic analyses to PA subjects. Studies involving serial analysis of gene expression and microarray, epigenetic studies with methylome analyses and micro-RNA expression profiles, and metabolomic studies focused on improving understanding of the regulation of autonomous aldosterone production in PA were all included. Results: In this review we summarize the main findings in this area and analyze the interplay between primary aldosteronism and several signaling pathways with differential regulation of the RNA and protein expression of several factors involved in, among others, steroidogenesis, calcium signaling, and nuclear, membrane and G-coupled protein receptors. Distinct transcriptomic and metabolomic patterns are also presented herein, depending on the mutational status of APAs. In particular, two partially opposite transcriptional and steroidogenic profiles appear to distinguish APAs carrying a <i>KCNJ5</i> mutation from all other APAs, which carry different mutations. Conclusions: These findings can substantially contribute to the development of personalized treatment in patients with PA.Ariadni SpyroglouGeorge P. PiaditisGregory KaltsasKrystallenia I. AlexandrakiMDPI AGarticleprimary aldosteronismtranscriptomicsepigeneticsmetabolomicsNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENCancers, Vol 13, Iss 5582, p 5582 (2021)
institution DOAJ
collection DOAJ
language EN
topic primary aldosteronism
transcriptomics
epigenetics
metabolomics
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
spellingShingle primary aldosteronism
transcriptomics
epigenetics
metabolomics
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Ariadni Spyroglou
George P. Piaditis
Gregory Kaltsas
Krystallenia I. Alexandraki
Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism
description Introduction: Primary aldosteronism (PA) is the most common cause of endocrine hypertension, mainly caused by aldosterone-producing adenomas or hyperplasia; understanding its pathophysiological background is important in order to provide ameliorative treatment strategies. Over the past several years, significant progress has been documented in this field, in particular in the clarification of the genetic and molecular mechanisms responsible for the pathogenesis of aldosterone-producing adenomas (APAs). Methods: Systematic searches of the PubMed and Cochrane databases were performed for all human studies applying transcriptomic, epigenetic or metabolomic analyses to PA subjects. Studies involving serial analysis of gene expression and microarray, epigenetic studies with methylome analyses and micro-RNA expression profiles, and metabolomic studies focused on improving understanding of the regulation of autonomous aldosterone production in PA were all included. Results: In this review we summarize the main findings in this area and analyze the interplay between primary aldosteronism and several signaling pathways with differential regulation of the RNA and protein expression of several factors involved in, among others, steroidogenesis, calcium signaling, and nuclear, membrane and G-coupled protein receptors. Distinct transcriptomic and metabolomic patterns are also presented herein, depending on the mutational status of APAs. In particular, two partially opposite transcriptional and steroidogenic profiles appear to distinguish APAs carrying a <i>KCNJ5</i> mutation from all other APAs, which carry different mutations. Conclusions: These findings can substantially contribute to the development of personalized treatment in patients with PA.
format article
author Ariadni Spyroglou
George P. Piaditis
Gregory Kaltsas
Krystallenia I. Alexandraki
author_facet Ariadni Spyroglou
George P. Piaditis
Gregory Kaltsas
Krystallenia I. Alexandraki
author_sort Ariadni Spyroglou
title Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism
title_short Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism
title_full Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism
title_fullStr Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism
title_full_unstemmed Transcriptomics, Epigenetics, and Metabolomics of Primary Aldosteronism
title_sort transcriptomics, epigenetics, and metabolomics of primary aldosteronism
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/3022cd3b912f49498f9d2cec5fb9f9d9
work_keys_str_mv AT ariadnispyroglou transcriptomicsepigeneticsandmetabolomicsofprimaryaldosteronism
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AT gregorykaltsas transcriptomicsepigeneticsandmetabolomicsofprimaryaldosteronism
AT krystalleniaialexandraki transcriptomicsepigeneticsandmetabolomicsofprimaryaldosteronism
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