Rodriguez M Christine, MacDonald Jay R, Mahoney Douglas J, Parise Gianni, Beal M Flint, Tarnopolsky Mark A
Department of Kinesiology, McMaster University, Hamilton, Ontario, Canada.
Muscle Nerve. 2007 Feb;35(2):235-42. doi: 10.1002/mus.20688.
Mitochondrial disorders share common cellular consequences: (1) decreased ATP production; (2) increased reliance on alternative anaerobic energy sources; and (3) increased production of reactive oxygen species. The purpose of the present study was to determine the effect of a combination therapy (creatine monohydrate, coenzyme Q(10), and lipoic acid to target the above-mentioned cellular consequences) on several outcome variables using a randomized, double-blind, placebo-controlled, crossover study design in patients with mitochondrial cytopathies. Three patients had mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), four had mitochondrial DNA deletions (three patients with chronic progressive external ophthalmoplegia and one with Kearns-Sayre syndrome), and nine had a variety of other mitochondrial diseases not falling into the two former groups. The combination therapy resulted in lower resting plasma lactate and urinary 8-isoprostanes, as well as attenuation of the decline in peak ankle dorsiflexion strength in all patient groups, whereas higher fat-free mass was observed only in the MELAS group. Together, these results suggest that combination therapies targeting multiple final common pathways of mitochondrial dysfunction favorably influence surrogate markers of cellular energy dysfunction. Future studies with larger sample sizes in relatively homogeneous groups will be required to determine whether such combination therapies influence function and quality of life.
(1)三磷酸腺苷(ATP)生成减少;(2)对替代性无氧能量来源的依赖性增加;以及(3)活性氧生成增加。本研究的目的是采用随机、双盲、安慰剂对照、交叉研究设计,确定联合治疗(一水肌酸、辅酶Q10和硫辛酸,针对上述细胞后果)对线粒体细胞病患者多个结局变量的影响。三名患者患有线粒体脑肌病伴乳酸血症和卒中样发作(MELAS),四名患者有线粒体DNA缺失(三名慢性进行性眼外肌麻痹患者和一名患有卡恩斯-塞尔综合征患者),九名患者患有不属于前两组的各种其他线粒体疾病。联合治疗导致所有患者组静息血浆乳酸和尿8-异前列腺素降低,以及踝背屈峰值力量下降减弱,而仅在MELAS组观察到无脂肪量增加。总之,这些结果表明,针对线粒体功能障碍多个最终共同途径的联合治疗对细胞能量功能障碍的替代标志物有有利影响。未来需要在相对同质的群体中进行更大样本量的研究,以确定这种联合治疗是否会影响功能和生活质量。