Absence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production | Zendy

Paolo Mulatero | Zendy; Nicola Glorioso | Zendy; Francesco Fallo | Zendy; A Soro | Zendy; Stefania Cella | Zendy; Renata Carra | Zendy; Fabiana Filigheddu | Zendy; Franco Veglio | Zendy

Open Access

Absence of D147E mutation of CYP11B2 gene in hypertensive patients with increased corticosterone and aldosterone production

Author(s) -

Paolo Mulatero,

Nicola Glorioso,

Francesco Fallo,

A Soro,

Stefania Cella,

Renata Carra,

Fabiana Filigheddu,

Franco Veglio

Publication year - 2001

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje.0.1440397

Subject(s) - steroid 11 beta hydroxylase , aldosterone synthase , aldosterone , corticosterone , endocrinology , medicine , primary aldosteronism , mutation , secondary hypertension , hyperaldosteronism , gene , essential hypertension , biology , renin–angiotensin system , steroid , genetics , blood pressure , hormone

11beta-Hydroxylase and aldosterone synthase are two highly homologous genes involved in different forms of human hypertension and in different animal models of hypertension. It has been shown that the conservative substitution D147E in the human CYP11B2 gene results in an increased production of corticosterone and aldosterone in vitro. A gene conversion between the CYP11B1 and CYP11B2 genes could be responsible for such a substitution.

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