Heart disease remains one of the most serious complications of Friedreich ataxia. Researchers have identified a group of protective fats, called plasmalogens, that are significantly depleted in affected heart cells. Because plasmalogens help protect cell membranes from oxidative damage, their loss may make heart tissue more vulnerable to injury and dysfunction.
This project will use stem cell-derived heart models and blood samples from people with FA to understand how different lipids contribute to FA heart disease. Researchers will map changes in lipids across different heart cell types, determine whether these changes can be detected in blood as biomarkers of cardiac risk, and test whether restoring plasmalogens using a dietary supplement called alkylglycerol can improve heart function.
The team will also evaluate whether existing and emerging therapies, including omaveloxolone and frataxin gene therapy, correct lipid profiles, and whether combining them with plasmalogen replacement provides additional benefit. This work could identify a new driver of cardiomyopathy, support the development of an early blood-based test for heart disease, and guide new strategies to protect heart function.