title: Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany. dorothea.haas@med.uni-heidelberg.de
authors.forename: Dorothea
authors.initials: D
authors.lastname: Haas
authors.forename: Petra
authors.initials: P
authors.lastname: Niklowitz
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Werner
authors.initials: W
authors.lastname: Andler
authors.forename: Thomas
authors.initials: T
authors.lastname: Menke
mesh_terms: D001792:Blood Platelets / Q000737:chemistry* / Q000187:drug effects; D002648:Child; D002675:Child, Preschool; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use*; D007223:Infant; D019821:Simvastatin / Q000627:therapeutic use*; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood* / Q000188:drug therapy; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000097:blood; D014810:Vitamin E / Q000097:blood
chemical_list: D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D014451:Ubiquinone; D014810:Vitamin E; D019821:Simvastatin; C024989:coenzyme Q10