MON-LB030 Muscle Mitochondrial Oxidative Phosphorylation Capacity and Whole Body Glucose Metabolism in Friedreich's Ataxia

ABSTRACT: Abstract Background: Friedreich’s Ataxia (FA) is a neurodegenerative disease caused by disruptions in the gene encoding frataxin, a protein involved in formation of the iron-sulfur clusters needed for mitochondrial oxidative phosphorylation (OXPHOS). FA confers an increased risk for diabetes mellitus, but the mechanisms underlying this propensity are not well understood. Design: Cross-sectional study (clinicaltrials.gov: NCT02920671) Methods: Participants were non-diabetic individuals with FA (ages 18y-<65y) and healthy controls with a similar distribution of age, sex, BMI, and ancestry. OXPHOS capacity of calf muscle was assessed using a non-invasive, exercise-based MRI technique, creatine chemical exchange saturation transfer (CrCEST); results for lateral gastrocnemius (LG), the most con

SUBMITTER: Nguyen S 

PROVIDER: S-EPMC6550843 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature