Haas Dorothea, Niklowitz Petra, Hoffmann Georg F, Andler Werner, Menke Thomas
Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.
Biofactors. 2008;32(1-4):191-7. doi: 10.1002/biof.5520320123.
SLOS is caused by a defect of cholesterol synthesis. HMG-CoA reductase inhibitors have been shown to improve biochemical parameters in this condition, but they have also been associated with CoQ10 deficiency in patients with hypercholesterolemia. The aim of this study was to analyse plasma and intracellular CoQ10 levels in SLOS patients and to determine the influence of HMG-CoA reductase inhibitors.
Plasma concentrations of CoQ10 and vitamin E were measured in 14 patients, intracellular CoQ10 levels were determined in platelets of 10 patients with SLOS and compared to controls.
Plasma CoQ10 and vitamin E levels were significantly lower in SLOS patients. This difference equalised after adjustment to cholesterol concentrations. Treatment with simvastatin did not influence CoQ10 levels and redox status. Platelet CoQ10 concentrations were similar between patients and controls but there were striking differences in the CoQ10 redox status with a decrease of oxidised CoQ10.
Decreased concentrations of plasma CoQ10 and vitamin E in SLOS patients are due to a diminished carrier capacity. The higher percentage of reduced CoQ10 in platelets points to an up-regulation of mitochondrial protection mechanisms. Further studies are needed to evaluate a possible benefit of CoQ10 supplementation in SLOS patients.
Smith-Lemli-Opitz综合征（SLOS）由胆固醇合成缺陷引起。已证明HMG-CoA还原酶抑制剂可改善这种情况下的生化指标，但它们也与高胆固醇血症患者的辅酶Q10（CoQ10）缺乏有关。本研究的目的是分析SLOS患者血浆和细胞内CoQ10水平，并确定HMG-CoA还原酶抑制剂的影响。
测量了14例患者的血浆CoQ10和维生素E浓度，测定了10例SLOS患者血小板中的细胞内CoQ10水平，并与对照组进行比较。
SLOS患者的血浆CoQ10和维生素E水平显著降低。在根据胆固醇浓度进行调整后，这种差异趋于平衡。辛伐他汀治疗不影响CoQ10水平和氧化还原状态。患者和对照组的血小板CoQ10浓度相似，但CoQ10氧化还原状态存在显著差异，氧化型CoQ10减少。
SLOS患者血浆CoQ10和维生素E浓度降低是由于载体能力下降。血小板中还原型CoQ10的比例较高表明线粒体保护机制上调。需要进一步研究以评估补充CoQ10对SLOS患者可能带来的益处。
