Eleff S M, Barker P B, Blackband S J, Chatham J C, Lutz N W, Johns D R, Bryan R N
Department of Anesthesiology, Johns Hopkins Medical School, Baltimore, MD.
Ann Neurol. 1990 Jun;27(6):626-30. doi: 10.1002/ana.410270607.
The hypothesis that brain mitochondria are directly affected in several phenotypes associated with disordered oxidative phosphorylation was tested using phosphorus 31 (31P) magnetic resonance spectroscopy. Abnormal phosphorylation potentials in skeletal muscle have been demonstrated by 31P magnetic resonance spectroscopy in patients with mitochondrial cytopathies (heritable disorders of oxidative phosphorylation), but abnormalities of phosphorylation potentials in other organs have not been documented. Several lines of evidence suggest that these mutations may affect mitochondria in nonmuscle tissue. In this study we found that phosphocreatine-to-ATP ratios in brain were significantly reduced and that calculated brain ADP concentrations, phosphorylation potentials, and percentage of maximal rate of ATP synthesis were significantly altered in the 5 patients examined. This study indicates a primary abnormality of mitochondrial function in the brain, even in the absence of clinically evident cerebral dysfunction.
使用磷31（31P）磁共振波谱法对脑线粒体在几种与氧化磷酸化紊乱相关的表型中受到直接影响这一假说进行了检验。磷31磁共振波谱法已证实线粒体细胞病（氧化磷酸化的遗传性疾病）患者骨骼肌中的磷酸化电位异常，但其他器官中磷酸化电位的异常尚未见报道。有几条证据表明，这些突变可能影响非肌肉组织中的线粒体。在本研究中，我们发现，在所检查的5例患者中，脑内磷酸肌酸与三磷酸腺苷（ATP）的比率显著降低，且计算得出的脑二磷酸腺苷（ADP）浓度、磷酸化电位以及ATP合成最大速率的百分比均有显著改变。本研究表明，即使在没有临床明显脑功能障碍的情况下，脑内线粒体功能也存在原发性异常。
