Integrating Genetics and Genomics in Primary Aldosteronism


Although the 2008 guidelines for the management of PA have been pivotal for homogenizing screening procedures and treatment among specialized centers,13 there remain a few critical issues related to diagnosis, subtype differentiation, and treatment of nonsurgically correctable forms. Reliable diagnostic and prognostic biomarkers are lacking for more sensitive and specific screening, as well as new therapeutic avenues, because medical and/or surgical treatment of PA leads to normotension in only a minority of patients. This may come from a better understanding of the pathogenic mechanisms of the disease, in particular, identification of the genetic and molecular determinants leading to the development of APA and BAH. Over the last few years, considerable efforts have been made to this end by different groups, taking advantage of developments in high-throughput “omics” technologies, in particular transcriptomics, and more recently new generation exome sequencing, together with genetically modified mouse models. This review summarizes our current knowledge on the genetics (genes and their roles in inheritance) and genomics (genome-wide studies addressing variations in gene structure and expression) of PA, in both familial and sporadic forms of the disease, trying to integrate genetic abnormalities and gene dosage effects into a pathophysiological perspective related to aldosterone production and cell proliferation.

Authors: Maria-Christina Zennaro, Xavier Jeunemaitre, Sheerazed Boulkroun
Keywords: genomics, KCNJ5, mutation
DOI Number: 10.1161/HYPERTENSIONAHA.111.188250      Publication Year: 2012

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