Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case.
In the second known case of non-thyroidal hypermetabolism (Luft's disease), there were large areas of mitochondrial aggregates in all fibers. Many mitochondria were abnormally large and contained packed cristae. In isolated mitochondrial fractions, studies of oxidative phosphorylation showed defective respiratory control and normal phosphorylation capacity ("loose coupling"). Spectra and content of cytochromes were normal. Basal ATPase activity was seven times greater than normal and poorly stimulated by 2,4-dinitrophenol. The rate of energy-dependent calcium uptake by isolated mitochondria was normal, but the amount of calcium accumulated was much decreased. Calcium could not be retained and was spontaneously released into the medium within 30 seconds. "Recycling" of calcium between mitochondria and cytosol may take place in vivo and result in sustained stimulation of respiration and loose coupling.
D000328:Adult; D002118:Calcium / Q000378:metabolism; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008659:Metabolic Diseases / Q000378:metabolism / Q000473:pathology; D008931:Mitochondria, Muscle / Q000378:metabolism / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000378:metabolism / Q000473:pathology*; D010085:Oxidative Phosphorylation
D006003:Glycogen; D002118:Calcium