SVI researchers awarded funding to tackle heart disease in Friedreich ataxia

SVI researchers have been awarded US$250,000 from the Friedreich’s Ataxia Research Alliance (FARA) to investigate new ways to understand and treat heart disease in people with Friedreich ataxia. 

Led by Dr Jarmon Lees, Head of SVI’s Cardiometabolic Disease Lab, the two-year project will explore how changes in fats, or lipids, within heart cells contribute to cardiomyopathy, a major cause of illness and early death in people with Friedreich ataxia. 

Understanding Friedreich ataxia heart disease 

Friedreich ataxia is a rare inherited condition that affects the nervous system and heart. While treatments are emerging for some aspects of the condition, there are currently no treatments specifically approved for Friedreich ataxia-related cardiomyopathy. 

Jarmon and his team have discovered that heart tissue grown from Friedreich ataxia patient cells has reduced levels of plasmalogens, which are protective lipids that help defend cells against oxidative damage. 

Encouragingly, early experiments found that restoring these lipids using compounds called alkylglycerols improved the contraction and relaxation of 3D heart tissue grown in the laboratory. 

The new project will build on these findings, using stem cell-derived heart models to better understand how lipid changes contribute to heart disease and whether restoring plasmalogens could help protect heart function. 

Towards earlier detection and new treatments 

The researchers will also investigate whether the lipid changes found in heart tissue can be detected in blood samples from people with Friedreich ataxia. 

This could help identify potential blood-based biomarkers of cardiomyopathy, with the longer-term goal of identifying people at risk of heart complications earlier. 

The team will also examine how these lipid changes respond to existing and emerging Friedreich ataxia therapies, including omaveloxolone and frataxin gene therapy. 

Ultimately, the research could provide new insights into why heart disease develops in Friedreich ataxia and help guide new approaches to detecting and treating this serious complication.