Mitochondrial functions in five cases of human neuromuscular disorders

Abstract

The respiration, respiratory control, and Pi:O ratios were determined with different substrates in mitochondria isolated from 5 cases of human neuromuscular disorders (2 cases of central core disease, 2 of neuropathy of Dejerine Sottas, and one of Kugelberg Welander's disease) and compared with normal human muscle. In all the myopathies studied, severe derangement of respiratory control with variable derangement of oxidative phosphorylation was found. This supports the idea that a group of neuromyopathies shares the same biochemical lesion as the so called mitochondrial myopathies, forming with them a group of myopathies which may be related through a similar biochemical lesion of varying degree. Alternatively, disturbance of mitochondrial functions in a number of myopathies could be considered as a non specific finding.