Genetics of primary aldosteronism.
Over the last few years, much progress has been made in understanding the genetic basis of primary aldosteronism. This has led to the diagnosis of the familial forms and has aided the understanding of the basis of sporadic forms of the disease. Such information can be exploited to improve the therapeutic approaches used not only for patients with primary aldosteronism, but also with other forms of hypertension. Here, we review the genetic and the phenotypic features of the familial forms, the genetic variants that influence the sporadic forms and the structure and regulation of the CYP11B1 and CYP11B2 genes.
Mulatero
Paolo
P
Department of Medicine and Experimental Oncology, San Vito Hospital, University of Torino, Torino, Italy. paolo.mulatero@libero.it
Morello
Fulvio
F
Veglio
Franco
F
D000450:Aldosterone / Q000378:metabolism; D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics; D005786:Gene Expression Regulation; D014644:Genetic Variation; D005823:Genetics; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006973:Hypertension / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics
D000450:Aldosterone; D019405:Cytochrome P-450 CYP11B2; D013252:Steroid 11-beta-Hydroxylase