Author/Authors :
Raquel Montero، نويسنده , , José Antonio S?nchez-Alc?zar، نويسنده , , Paz Briones، نويسنده , , ?ngeles Rodr?guez Hern?ndez، نويسنده , , Mario D. Cordero، نويسنده , , Eva Trevisson، نويسنده , , Leonardo Salviati، نويسنده , , Mercé Pineda، نويسنده , , Angels Garc?a-Cazorla، نويسنده , , Pl?cido Navas، نويسنده , , Rafael Artuch، نويسنده ,
Abstract :
Objectives
To study CoQ10 concentrations in muscle and fibroblast from 6 patients with a CoQ10 deficiency syndrome.
Design and methods
CoQ10 was quantified by HPLC with electrochemical detection.
Results
Four out of the 6 cases showed muscle CoQ10 deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ10 values in fibroblasts when compared with controls.
Conclusions
Biochemical study of CoQ10 in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients
Keywords :
Pediatric patients , Coenzyme Q10 deficiency , Mitochondrial disorders , Mitochondrial respiratory chain
