The fuel preference of human muscle mitochondria has been given. Substrates which are oxidized with low velocity cannot be used to detect defects in oxidative phosphorylation. After general anaesthesia, the oxygen uptake with the different substrates is much lower than after local analgesia. The latter was therefore used in the subsequent study. In 15 out of 18 patients with ocular myopathy, defects in oxidative phosporylation could be detected in isolated muscle mitochondria prepared from freshly biopsied tissue. Measurement of the activity of segments of the respiratory chain in homogenate from frozen muscle showed no, or minor defects. In two of these patients showing exercise intolerance, decreased oxidation of NAD+-linked substrates and apparently normal mitochondrial DNA, further study revealed deficiency of pyruvate dehydrogenase in a girl with ptosis and a high Km of complex I for NADH in a man. Both patients responded to vitamin therapy.

chronic progressive external, DNA, human, Kearns-Sayre syndrome, mitochondrial, mitochondrial defect, muscle mitochondrion, ophthalmoplegia, oxidative phosphorylation
dx.doi.org/10.1016/0005-2728(90)90251-X, hdl.handle.net/1765/60951
BBA - Bioenergetics
Department of Orthopaedics

Scholte, H.R, Agsteribbe, E, Busch, H.F.M, Hoogenraad, T.U, Jennekens, F.G.I, van Linge, B, … Verduin, M.H.M. (1990). Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia. BBA - Bioenergetics, 1018(2-3), 211–216. doi:10.1016/0005-2728(90)90251-X