Article
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
Nature genetics - 1 Apr 2013
Beuschlein Felix, Boulkroun Sheerazed, Osswald Andrea, Wieland Thomas, Nielsen Hang N, Lichtenauer Urs D, Penton David, Schack Vivien R, Amar Laurence, Fischer Evelyn, Walther Anett, Tauber Philipp, Schwarzmayr Thomas, Diener Susanne, Graf Elisabeth, Allolio Bruno, Samson-Couterie Benoit, Benecke Arndt, Quinkler Marcus, Fallo Francesco, Plouin Pierre-Francois, Mantero Franco, Meitinger Thomas, Mulatero Paolo, Jeunemaitre Xavier, Warth Richard, Vilsen Bente, Zennaro Maria-Christina, Strom Tim M, Reincke Martin
Abstract excerpt
Primary aldosteronism is the most prevalent form of secondary hypertension. To explore molecular mechanisms of autonomous aldosterone secretion, we performed exome sequencing of aldosterone-producing adenomas (APAs). We identified somatic hotspot mutations in the ATP1A1 (encoding an Na(+)/K(+) ATPase α subunit) and ATP2B3 (encoding a Ca(2+) ATPase) genes in three and two of the nine APAs, respectively. These...
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