Propionic Acidemia‐Induced Proarrhythmic Electrophysiological Alterations in Human iPSC‐Derived Cardiomyocytes

• Published in: Journal of inherited metabolic disease Vol. 48; no. 3; pp. e70030 - n/a
• Main Authors: Cámara‐Checa, Anabel, Álvarez, Mar, Rapún, Josu, Pérez‐Martín, Sara, Núñez‐Fernández, Roberto, Rubio‐Alarcón, Marcos, Crespo‐García, Teresa, Desviat, Lourdes R., Delpón, Eva, Caballero, Ricardo, Richard, Eva
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.05.2025; Blackwell Publishing Ltd
• Subjects: Action Potentials - physiology; Arrhythmia; Arrhythmias, Cardiac - etiology; Arrhythmias, Cardiac - metabolism; Arrhythmias, Cardiac - physiopathology; Calcium (intracellular); Calcium currents; Cardiac arrhythmia; Cardiomyocytes; Cardiomyopathy; Excitability; Heart; Humans; human‐induced pluripotent stem cell‐derived cardiomyocytes; Induced Pluripotent Stem Cells - cytology; Induced Pluripotent Stem Cells - metabolism; Ion currents; Latency; Membrane potential; Metabolic disorders; Methylmalonyl-CoA Decarboxylase - genetics; Mutation; Myocytes, Cardiac - metabolism; Myocytes, Cardiac - physiology; Na+/Ca2+ exchanger; Original; Patch-Clamp Techniques; patch‐clamp; Pluripotency; Propionic acidemia; Propionic Acidemia - complications; Propionic Acidemia - genetics; Propionic Acidemia - metabolism; Propionic Acidemia - physiopathology; human‐induced pluripotent stem cell‐derived cardiomyocytes; propionic acidemia; patch‐clamp; ion currents; heart

ABSTRACT Propionic acidemia (PA) is a metabolic disorder caused by a deficiency of the mitochondrial enzyme propionyl‐CoA carboxylase (PCC) due to mutations in the PCCA or PCCB genes, which encode the two PCC subunits. PA may lead to several types of cardiomyopathy and has been linked to cardiac ele...