Ultrastructural study of globular inclusions in human skeletal muscle mitochondria.

Limb muscle biopsies from a patient with Luft's disease and a patient with a slowly progressive neuromuscular disorder since infancy revealed by conventional electron microscopy the presence of globular inclusions in the mitochondria as one of the most prominent morphological findings. Electron cytochemical studies on fresh tissue blocks showed no cytochrome c oxidase activity within the globular inclusions. The study of strontium uptake supported by either NAD and flavo-protein linked substrates in freshly isolated mitochondria fractions showed no electron-dense needles within the globular inclusions. Attempts to remove the inclusions with pepsin and with pronase on ultrathin sections failed but they were partially and totally removed by treatment of the sections with hydrogen peroxide. Freeze fracture studies showed the globular inclusions consisted of amorphous and lamellar material. The results suggest that the globular inclusions in muscle mitochondria may consist primarily of lipid.