Mitochondrial functions in five cases of human neuromuscular disorders.
We determined the respiration, respiratory control, and Pi:O ratios with different substrates in mitochondria isolated from five cases of human neuromuscular disorders (two cases of central core disease, two cases of neuropathy of Dejerine-Sottas, and one case of Kugelberg-Welander's disease) and compared them with normal human muscle. In all the myopathies studied, a severe derangement of the 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.
D000244:Adenosine Diphosphate / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D001205:Ascorbic Acid / Q000378:metabolism; D002648:Child; D005260:Female; D005971:Glutamates / Q000378:metabolism; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D008293:Malates / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009046:Motor Neurons; D009133:Muscular Atrophy / Q000235:genetics / Q000378:metabolism; D009135:Muscular Diseases / Q000378:metabolism*; D009223:Myotonic Dystrophy / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000235:genetics / Q000378:metabolism*; D010085:Oxidative Phosphorylation; D010086:Oxidative Phosphorylation Coupling Factors / Q000378:metabolism; D010101:Oxygen Consumption; D010710:Phosphates / Q000378:metabolism; D013118:Spinal Cord Diseases / Q000235:genetics / Q000378:metabolism; D013386:Succinates / Q000378:metabolism
D005971:Glutamates; D008293:Malates; D010086:Oxidative Phosphorylation Coupling Factors; D010710:Phosphates; D013386:Succinates; D000244:Adenosine Diphosphate; D001205:Ascorbic Acid