Progress on Genetic Basis of Primary Aldosteronism

Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with...

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Autores principales:	Izabela Karwacka, Łukasz Obołończyk, Sonia Kaniuka-Jakubowska, Michał Bohdan, Krzysztof Sworczak
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	primary aldosteronism familial hyperaldosteronism ion channels aldosterone-producing adenoma <i>KCNJ5</i> <i>ATP1A1</i> Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/fa1f82f2f734431ab5daddcf1a8c0822
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spelling	oai:doaj.org-article:fa1f82f2f734431ab5daddcf1a8c08222021-11-25T16:51:05ZProgress on Genetic Basis of Primary Aldosteronism10.3390/biomedicines91117082227-9059https://doaj.org/article/fa1f82f2f734431ab5daddcf1a8c08222021-11-01T00:00:00Zhttps://www.mdpi.com/2227-9059/9/11/1708https://doaj.org/toc/2227-9059Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with a high rate of cardiovascular complications. PA is most often caused by a bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA); rarer causes of PA include genetic disorders of steroidogenesis (familial hyperaldosteronism (FA) type I, II, III and IV), aldosterone-producing adrenocortical carcinoma, and ectopic aldosterone-producing tumors. Over the last few years, significant progress has been made towards understanding the genetic basis of PA, classifying it as a channelopathy. Recently, a growing body of clinical evidence suggests that mutations in ion channels appear to be the major cause of aldosterone-producing adenomas, and several mutations within the ion channel encoding genes have been identified. Somatic mutations in four genes (<i>KCNJ5</i>, <i>ATP1A1</i>, <i>ATP2B3</i> and <i>CACNA1D</i>) have been identified in nearly 60% of the sporadic APAs, while germline mutations in <i>KCNJ5</i> and <i>CACNA1H</i> have been reported in different subtypes of familial hyperaldosteronism. These new insights into the molecular mechanisms underlying PA may be associated with potential implications for diagnosis and therapy.Izabela KarwackaŁukasz ObołończykSonia Kaniuka-JakubowskaMichał BohdanKrzysztof SworczakMDPI AGarticleprimary aldosteronismfamilial hyperaldosteronismion channelsaldosterone-producing adenoma<i>KCNJ5</i><i>ATP1A1</i>Biology (General)QH301-705.5ENBiomedicines, Vol 9, Iss 1708, p 1708 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	primary aldosteronism familial hyperaldosteronism ion channels aldosterone-producing adenoma <i>KCNJ5</i> <i>ATP1A1</i> Biology (General) QH301-705.5
spellingShingle	primary aldosteronism familial hyperaldosteronism ion channels aldosterone-producing adenoma <i>KCNJ5</i> <i>ATP1A1</i> Biology (General) QH301-705.5 Izabela Karwacka Łukasz Obołończyk Sonia Kaniuka-Jakubowska Michał Bohdan Krzysztof Sworczak Progress on Genetic Basis of Primary Aldosteronism
description	Primary aldosteronism (PA) is a heterogeneous group of disorders caused by the autonomous overproduction of aldosterone with simultaneous suppression of plasma renin activity (PRA). It is considered to be the most common endocrine cause of secondary arterial hypertension (HT) and is associated with a high rate of cardiovascular complications. PA is most often caused by a bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenoma (APA); rarer causes of PA include genetic disorders of steroidogenesis (familial hyperaldosteronism (FA) type I, II, III and IV), aldosterone-producing adrenocortical carcinoma, and ectopic aldosterone-producing tumors. Over the last few years, significant progress has been made towards understanding the genetic basis of PA, classifying it as a channelopathy. Recently, a growing body of clinical evidence suggests that mutations in ion channels appear to be the major cause of aldosterone-producing adenomas, and several mutations within the ion channel encoding genes have been identified. Somatic mutations in four genes (<i>KCNJ5</i>, <i>ATP1A1</i>, <i>ATP2B3</i> and <i>CACNA1D</i>) have been identified in nearly 60% of the sporadic APAs, while germline mutations in <i>KCNJ5</i> and <i>CACNA1H</i> have been reported in different subtypes of familial hyperaldosteronism. These new insights into the molecular mechanisms underlying PA may be associated with potential implications for diagnosis and therapy.
format	article
author	Izabela Karwacka Łukasz Obołończyk Sonia Kaniuka-Jakubowska Michał Bohdan Krzysztof Sworczak
author_facet	Izabela Karwacka Łukasz Obołończyk Sonia Kaniuka-Jakubowska Michał Bohdan Krzysztof Sworczak
author_sort	Izabela Karwacka
title	Progress on Genetic Basis of Primary Aldosteronism
title_short	Progress on Genetic Basis of Primary Aldosteronism
title_full	Progress on Genetic Basis of Primary Aldosteronism
title_fullStr	Progress on Genetic Basis of Primary Aldosteronism
title_full_unstemmed	Progress on Genetic Basis of Primary Aldosteronism
title_sort	progress on genetic basis of primary aldosteronism
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/fa1f82f2f734431ab5daddcf1a8c0822
work_keys_str_mv	AT izabelakarwacka progressongeneticbasisofprimaryaldosteronism AT łukaszobołonczyk progressongeneticbasisofprimaryaldosteronism AT soniakaniukajakubowska progressongeneticbasisofprimaryaldosteronism AT michałbohdan progressongeneticbasisofprimaryaldosteronism AT krzysztofsworczak progressongeneticbasisofprimaryaldosteronism
_version_	1718412934805192704

Progress on Genetic Basis of Primary Aldosteronism

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