Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3

Celso E. Gomez-Sanchez, Xin Qi, Elise P. Gomez-Sanchez, Hironobu Sasano, Martin O. Bohlen, Max Wisgerhof

研究成果: Article査読

13 被引用数 (Scopus)

抄録

Three forms of familial primary aldosteronism have been recognized. Familial Hyperaldosteronism type 1 (FH1) or dexamethasone suppressible hyperaldosteronism, FH2, the most common form of as yet unknown cause(s), and FH3. FH3 is due to activating mutations of the potassium channel gene KCNJ5 that increase constitutive and angiotensin II-induced aldosterone synthesis. In this study we examined the cellular distribution of CYP11B2, CYP11B1, CYP17A1 and KCNJ5 in adrenals from two FH3 siblings using immunohistochemistry and immunofluorescence and obtained unexpected results. The adrenals were markedly enlarged with loss of zonation. CYP11B2 was expressed sporadically throughout the adrenal cortex. CYP11B2 was most often expressed by itself, relatively frequently with CYP17A1, and less frequently with CYP11B1. KCNJ5 was co-expressed with CYP11B2 and in some cells with CYP11B1. This aberrant co-expression of enzymes likely explains the abnormally high secretion rate of the hybrid steroid, 18-oxocortisol.

本文言語English
ページ(範囲)74-80
ページ数7
ジャーナルMolecular and Cellular Endocrinology
439
DOI
出版ステータスPublished - 2017 1 5

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 内分泌学

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