The overarching aim of this observational study is to determine alterations in energy balance while exploring the underlying cellular mechanisms in human genetic models of mitochondrial stress. In a case-control design, individuals with pathogenic mitochondrial DNA mutations will be compared to healthy controls matched for sex, age, and physical activity level. Participants will attend a screening visit and an experimental trial including assessments of energy expenditure, appetite sensation, energy intake, and muscle and subcutaneous adipose tissue biopsy samples.
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Resting energy expenditure
Timeframe: Before (baseline) and 60-180 minutes after ingestion of a glucose solution
Appetite
Timeframe: Before (baseline) and 60-180 minutes after ingestion of a glucose solution as well as immediately after an ad libitum meal test
Energy intake
Timeframe: 180 minutes after ingestion of a glucose solution