A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism
Journal
Frontiers in Endocrinology
Journal Volume
13
Pages
816476
Date Issued
2022
Author(s)
Peng, Kang-Yung
Tsai, Yao-Chou
Hu, Ya-Hui
TAIPAI Study Group
Abstract
Background: mutation represents a minor etiology in primary aldosteronism, it plays a significant role in causing uPAs in sporadic cases. Objective: mutation in patients with uPA and investigate the pathophysiological, immunohistological, and clinical characteristics of the variant. Methods: studies, demonstrating aldosterone production in variant-transfected human adrenal cell lines. Results: p.V1937M variant results in increased CYP11B2 expression and aldosterone biosynthesis in HAC15 cells. A distinct heterogeneous foamy pattern of CYP11B2 and CYP17A1 expression was identified in immunohistological staining, supporting the pathological evidence of aldosterone synthesis. Conclusions: p.V1937M might be a pathogenic driver in aldosterone overproduction. This study provides new insight into the molecular mechanism and disease outcomes of uPA.
SDGs
Publisher
Frontiers Media S.A.
Type
journal article