PITX2 deficiency leads to atrial mitochondrial dysfunction.
Jasmeet S ReyatLaura C SommerfeldMolly O'ReillyVictor R CardosoEllen ThiemannAbdullah O KhanChristopher O'SheaSönke HarderChristian MüllerJonathan BarlowRachel J StapleyWinnie ChuaS Nashitha KabirOlivia GrechOliver HummelNorbert HübnerStefan KääbLluis MontStéphane N HatemJoris WintersStef ZeemeringNeil V MorganJulie RayesKatja GehmlichMonika StollTheresa BrandMichaela SchweizerAngelika PiaseckiUlrich SchottenGeorgios V GkoutosKristina LorenzFriederike CuelloPaulus F KirchhofLarissa FabritzPublished in: Cardiovascular research (2024)
In summary, PITX2 deficiency causes mitochondrial dysfunction and a metabolic shift to glycolysis in human atrial cardiomyocytes. PITX2-dependent metabolic changes can contribute to the structural and functional defects found in PITX2-deficient atria.