Functional characterization of KCNA5 gene variants linked to pulmonary arterial hypertension

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].