Characterization of Fatigue in Patients with Friedreich’s Ataxia by Assessment of Mitochondrial Function in Skeletal and Cardiac Muscle

Fatigue is one of the most common and disabling symptoms of Friedreich’s ataxia (FA), affecting over 90% of patients and limiting daily activities. Unlike normal tiredness, fatigue in FA arises from a fundamental problem with cellular energy production caused by mitochondrial dysfunction. Dr. Puneet Bagga’s project will use a novel chemical exchange saturation transfer (CEST) MRI-based imaging method, to measure mitochondrial function directly in both skeletal and cardiac muscle. The study will correlate these imaging results with objective tests of muscle strength and endurance, as well as patient-reported fatigue. By linking mitochondrial dysfunction to the clinical experience of fatigue, this work will help identify biomarkers that can track disease progression and response to therapy. By connecting mitochondrial dysfunction with the clinical experience of fatigue, this research aims to identify biomarkers that can track disease progression and response to therapy. These biomarkers could provide a sensitive, treatment-responsive measure to guide future clinical trials and accelerate the development of new interventions.