Arnold D L, Taylor D J, Radda G K
Ann Neurol. 1985 Aug;18(2):189-96. doi: 10.1002/ana.410180205.
Abnormal mitochondria are an increasingly recognized cause of neuromuscular disease. We have used phosphorus magnetic resonance spectroscopy to monitor noninvasively the metabolism of high-energy phosphates and the intracellular pH of human skeletal muscle in vivo in 12 patients with mitochondrial myopathy. At rest, an abnormality could be demonstrated in 11 of 12 patients. Ten patients had evidence of a reduced muscle energy state with at least one of the following abnormalities: low phosphorylation potential, low phosphocreatine concentration, high adenosine diphosphate concentration, or high inorganic phosphate concentration. Two patients had abnormal resting muscle intracellular pH. In some patients phosphocreatine concentration decreased to low values during exercise despite limited work output. This was not accompanied by particularly severe intracellular acidosis. Evidence of impaired rephosphorylation of adenosine diphosphate to adenosine triphosphate during recovery from exercise was found in approximately half the patients. Phosphorus magnetic resonance spectroscopy is useful in the noninvasive diagnosis of mitochondrial myopathies and in defining the pathophysiological basis of these disorders.
线粒体异常是神经肌肉疾病中一个日益被认识到的病因。我们利用磷磁共振波谱技术对12例线粒体肌病患者的人体骨骼肌高能磷酸盐代谢和细胞内pH值进行了无创监测。静息状态下，12例患者中有11例可显示异常。10例患者有肌肉能量状态降低的证据，伴有以下至少一种异常情况：磷酸化电位降低、磷酸肌酸浓度降低、二磷酸腺苷浓度升高或无机磷酸盐浓度升高。2例患者静息时肌肉细胞内pH值异常。在一些患者中，尽管运动量有限，但运动过程中磷酸肌酸浓度仍降至低值。这并未伴有特别严重的细胞内酸中毒。约半数患者在运动恢复过程中存在二磷酸腺苷再磷酸化生成三磷酸腺苷受损的证据。磷磁共振波谱技术有助于线粒体肌病的无创诊断，并有助于明确这些疾病的病理生理基础。
