Kearns-Sayre syndrome: primarily a mitochondriopathy?

Histopathological changes of the external eye muscles and of the peripheral skeletal muscles of 2 patients with Kearns-Sayre syndrome are demonstrated histochemically and electron microscopically. In one case the progression of the mitochondrial anomalies in this disease was documented through ultrastructural investigations of muscle biopsies over a period of 17 years. By freeze-fracture the membrane fracture faces of the transformed mitochondrial were examined in both patients. Biochemical results of one patient show that energy production by glycolysis is distinctly decreased with respect to oxydation. Clinical, morphological and biochemical results support the hypothesis that the Kearns-Sayre syndrome is caused by a primary mitochondriopathy which is not limited to the musculature.