What question did this study set out to answer?

This study aims to investigate the role of KCNA5 gene variants in the pathogenesis of pulmonary arterial hypertension.

June 20, 2026European Respiratory Journal0 citations

Functional characterization of KCNA5 gene variants linked to pulmonary arterial hypertension

RCRéka CsákiSemmelweis University VFVasile ForisVascular Medicine CEChristina A. EichstaedtHeidelberg University

Key Points

This study aims to investigate the role of KCNA5 gene variants in the pathogenesis of pulmonary arterial hypertension.
Characterized KCNA5 gene variants in relation to pulmonary arterial hypertension.
Evaluated potassium channel dysfunction in pulmonary arterial smooth muscle cells.
Identified specific KCNA5 variants that impair potassium channel function.
Demonstrated altered membrane potential and increased vasoconstriction in PASMCs with these variants.

Abstract

Extract Pulmonary arterial hypertension (PAH) is a progressive pulmonary vascular disease with heritable forms that account for approximately 10–20% of cases 1. Beyond variants in the TGF-β signaling pathway (BMPR2), mutations in ion channel genes have emerged as impactful contributors to disease pathogenesis 2. Potassium channels are key regulators of pulmonary arterial smooth muscle cell (PASMC) membrane potential and calcium homeostasis, and their dysfunction promotes vasoconstriction and proliferation 3.

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