At a glance
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Mitochondrial Derangements Driving Muscle Insulin Resistance in Humans
In Brief
An observational study for Mitochondrial Myopathies and 2 related conditions. Completed, enrolled 30 participants across 1 site.
Detailed Summary
The overarching aim of this observational study is to characterize muscle mitochondrial defects in individuals harboring pathogenic mitochondrial DNA (mtDNA) mutations associated with an insulin-resistant phenotype. In a case-control design, individuals with pathogenic mtDNA mutations will be compared to controls matched for sex, age, and physical activity level. Participants will attend a screening visit and two experimental trials including: * An oral glucose tolerance test * A hyperinsulinemic-euglycemic clamp combined with measurements of femoral artery blood flow and arteriovenous difference of glucose * Muscle biopsy samples