Nishio H, Wada H, Matsuo T, Horikawa H, Takahashi K, Nakajima T, Matsuo M, Nakamura H
Department of Pediatrics, Hyogo Chuo National Hospital, Sanda, Japan.
Brain Dev. 1990;12(4):390-402. doi: 10.1016/s0387-7604(12)80071-4.
We examined how the substances, especially glucose, free fatty acids (FFA) and ketone bodies, and hormones associated with energy metabolism change with the disease progress in Duchenne muscular dystrophy (DMD). Serum creatine kinase (CK) activity was used as an index of the stage of DMD, because this activity is exponentially decreases with the progress of the disease. The glucose concentration in DMD patients with CK activity of less than 1,000 U/l (low CK) was significantly lower than that in controls, although there was no significant difference between that in DMD patients with CK activity of more than 1,00 U/l (high CK) and that in controls. The FFA concentration in both high CK and low CK patients was significantly higher than that in controls. The FFA concentration in low CK patients tended to be higher than that in high CK patients. The ketone body concentration in low CK patients was significantly higher than that in controls and that in high CK patients. The [glucagon]:[insulin] ratio in low CK patients was significantly higher than that in controls and that in high CK patients. It was also observed in a correlational study that the glucose concentration decreased with the age and the decrease in CK activity, i.e., with the progress of DMD. The FFA and ketone body concentrations increased with the decrease in the glucose concentration. The decrease in the glucose concentration may be due to a caloric shortage and/or degenerated muscle, which cannot supply enough gluconeogenic substrates, such as alanine. The kinetics of insulin and glucagon in DMD may help to maintain the glucose metabolism. Increased concentrations of FFA and ketone bodies may be helpful in the advanced stage of DMD, as energy sources and as substrates, sparing muscle protein.
我们研究了在杜氏肌营养不良症（DMD）中，这些物质，尤其是葡萄糖、游离脂肪酸（FFA）和酮体，以及与能量代谢相关的激素如何随疾病进展而变化。血清肌酸激酶（CK）活性被用作DMD疾病阶段的指标，因为该活性会随着疾病进展呈指数下降。CK活性低于1000 U/l（低CK）的DMD患者的葡萄糖浓度显著低于对照组，而CK活性高于1000 U/l（高CK）的DMD患者与对照组之间则无显著差异。高CK和低CK患者的FFA浓度均显著高于对照组。低CK患者的FFA浓度往往高于高CK患者。低CK患者的酮体浓度显著高于对照组和高CK患者。低CK患者的[胰高血糖素]：[胰岛素]比值显著高于对照组和高CK患者。在一项相关性研究中还观察到，葡萄糖浓度随着年龄增长以及CK活性下降（即随着DMD进展）而降低。FFA和酮体浓度随着葡萄糖浓度降低而升高。葡萄糖浓度降低可能是由于热量不足和/或肌肉退化，无法提供足够的糖异生底物，如丙氨酸。DMD中胰岛素和胰高血糖素的动力学可能有助于维持葡萄糖代谢。FFA和酮体浓度升高在DMD晚期可能有帮助，可作为能量来源和底物，节省肌肉蛋白质。
