The genetic basis of primary aldosteronism.

Current Hypertension Reports
J W Funder

Abstract

Primary aldosteronism is commonly regarded as largely sporadic, but both germline and somatic mutations are increasingly recognized as underlying the condition. Three germline mutations causing familial hyperaldosteronism have been described, dubbed FH I (due to a CYP11B1/CYP11B2 chimera), FH II (localized to chromosome 7p22, exact location of mutation[s] unknown to date), and FH III (reflecting a T158A mutation in the potassium channel subunit KCNJ5). Major contributions (FH I, FH III) have been by Lifton and his associates; more recently they have also described somatic mutations (G151R, L168R) in KCNJ5 in over a third of aldosterone-producing adenomas, with results confirmed, refined, and extended in a much larger study from Europe. These findings have sparked considerable interest, and over the next 12 months a number of additional reports can be confidently expected to throw light on both normal and abnormal adrenocortical zonation and the genesis of primary aldosteronism.

References

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Jun 9, 2005·The Journal of Clinical Endocrinology and Metabolism·Michael StowasserThomas H Marwick
May 29, 2008·The Journal of Clinical Endocrinology and Metabolism·David S GellerRichard P Lifton
Oct 1, 2008·Trends in Pharmacological Sciences·Douglas A Bayliss, Paula Q Barrett
Feb 20, 2009·Clinical Endocrinology·Georgios P PiaditisGeorgios Chrousos
Oct 12, 2010·Journal of Human Hypertension·K J CarssK M O'Shaughnessy
Feb 12, 2011·Science·John W Funder
Jan 26, 2012·Hypertension·Sheerazed BoulkrounMaria-Christina Zennaro
Jan 26, 2012·Hypertension·John W Funder
Jan 28, 2012·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·J W Funder

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Citations

Jun 30, 2012·Pflügers Archiv : European journal of physiology·Hans Oberleithner
Sep 13, 2013·Peptides·Hajime YamamotoKazuhiro Takahashi
Mar 12, 2013·Heart·Joanne Maree Lind, Christine Laiwan Chiu
Nov 1, 2012·F1000 Biology Reports·Kristina Kusche-Vihrog, Hans Oberleithner
Jul 1, 2015·Archives of Pathology & Laboratory Medicine·Kai Duan, Ozgur Mete
Jan 27, 2015·Clinical Biochemistry·Muhammad RehanDaniel T Holmes
Dec 30, 2014·Journal of the American Society of Hypertension : JASH·Hongliang LiDavid C Kem
Aug 4, 2016·Endocrine-related Cancer·Ravi Kumar DuttaOliver Gimm
May 20, 2021·Scientific Reports·Ravi Kumar DuttaPeter Söderkvist

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