title: Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.
abstract: Coenzyme Q(10) (CoQ(10)) deficiency syndromes are potentially treatable disorders. Skeletal muscle is the most widely accepted tissue for their study, but sampling is an invasive procedure. Cultured skin fibroblasts seem to improve the biochemical diagnosis, but their growth requires a certain period of time. Our aim was to set up a minimally invasive, fast and reliable analytical procedure to measure CoQ(10) in lymphocytes, to prevent any delay in diagnosing primary CoQ(10) deficiency. HPLC-MS/MS analysis of CoQ(10) showed high sensitivity and specificity. The reference range was established in apparently healthy volunteers (n=33); the mean of CoQ(10) in lymphocytes was 107nmol/g protein (95% confidence interval: 105-120) and 2.0nmol/UCS (95% confidence interval: 2.06-2.46). Therefore, the range was narrower when normalized to units of citrate synthase (UCS) than when normalized to grams of protein. The method was linear from 0.01 to 1μM with a good precision and sensitivity (limit of quantification 0.01μM). Intra-assay and inter-assay coefficients of variation were lower than 13%. Recovery was higher than 95%. In our hands, lymphocytes seem to be a reliable matrix as they reflect intracellular content of CoQ(10). In addition, they can be obtained by a minimally invasive procedure (venipuncture).
authors.affiliation: IBC - Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Arias
authors.forename: J
authors.initials: J
authors.lastname: García-Villoria
authors.forename: A
authors.initials: A
authors.lastname: Rojo
authors.forename: N
authors.initials: N
authors.lastname: Buján
authors.forename: P
authors.initials: P
authors.lastname: Briones
authors.forename: A
authors.initials: A
authors.lastname: Ribes
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D016014:Linear Models; D008214:Lymphocytes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D018709:Statistics, Nonparametric; D053719:Tandem Mass Spectrometry / Q000379:methods*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000097:blood
chemical_list: D014451:Ubiquinone; C024989:coenzyme Q10