Scholte H R, Agsteribbe E, Busch H F, Hoogenraad T U, Jennekens F G, van Linge B, Luyt-Houwen I E, Ross J D, Ruiters M H, Verduin M H
Department of Biochemistry, Erasmus University, Rotterdam, The Netherlands.
Biochim Biophys Acta. 1990 Jul 25;1018(2-3):211-6. doi: 10.1016/0005-2728(90)90251-x.
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 phosphorylation 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.
人类肌肉线粒体的燃料偏好已经明确。氧化速度较慢的底物不能用于检测氧化磷酸化缺陷。全身麻醉后，不同底物的氧摄取量远低于局部镇痛后。因此，在后续研究中采用了局部镇痛。18例眼肌病患者中有15例，从新鲜活检组织制备的分离肌肉线粒体中可检测到氧化磷酸化缺陷。对冷冻肌肉匀浆中呼吸链各片段活性的测量显示无缺陷或仅有轻微缺陷。在这两名表现为运动不耐受的患者中，一名上睑下垂女孩的NAD(+)连接底物氧化减少，线粒体DNA明显正常，进一步研究发现丙酮酸脱氢酶缺乏；另一名男性患者复合体I对NADH的米氏常数较高。两名患者对维生素治疗均有反应。
