KCNA2 variants cause dilated cardiomyopathy, obesity and sleep apnea through RAC-ERK pathway - PubMed
5 hours ago
- #Sleep Apnea
- #Dilated Cardiomyopathy
- #Obesity
- KCNA2 variants are linked to dilated cardiomyopathy (DCM), obesity, and sleep apnea (DOSA).
- Pathogenic KCNA2 variants were identified in diverse patients with DOSA using next-generation sequencing.
- Electrophysiological and biochemical assays showed trafficking defects and loss of membrane current in KCNA2 variants.
- Patient-specific iPSC cardiomyocytes and organoid models revealed RAC1-ERK1/2 hyperactivation in disease pathogenesis.
- A Drosophila model expressing KCNA2 variant exhibited DOSA-like phenotypes, rescued by RAC1 inhibitors.
- This study expands the understanding of potassium channels' role in human diseases.