Patient-specific iPSCs Reveal Vascular Dysfunction in Friedreich Ataxia

Friedreich ataxia (FRDA) is a hereditary neuromuscular disorder, and heart disease is the leading cause of premature mortality. This abstract has been withdrawncure. Mutation of the frataxin gene reduces the level of the mitochondrial protein frataxin, which results in mitochondrial dysfunction and cell death. Clinical reports indicate that FRDA cardiomyopathy may be associated with abnormalities of the small coronary arteries, which are primarily composed of vascular endothelial cells (ECs) and smooth muscle cells (SMCs), although the mechanism is currently unknown. Here, we aim to examine the phenotype and functionality of ECs and SMCs derived from FRDA patient-specific induced pluripotent stem cells (iPSCs).