Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

摘要

Follow-up of body mass composition and calorimetric parameters between ages five (N = 12 mice per group) and 47 weeks (N = 6 mice per group). a Body weight; b percentage of fat mass and c lean mass over total body weight. Metabolic cage parameters during resting (day), activity (night), and average are shown: d food intake, e energy expenditure per kg of lean body mass, f energy balance corresponding to the difference between food intake and energy expenditure, g respiratory exchange ratio RER = 0.7 corresponding theoretically to 100% fatty acid oxidation, RER = 1 corresponding to 100% carbohydrate metabolism and h percentage of fatty acid oxidation in 5- and 32-week-old (w.o.) WT and SEPN1 KO.