Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.
OBJECTIVE
To study CoQ(10) concentrations in muscle and fibroblast from 6 patients with a CoQ(10) deficiency syndrome.


METHODS
CoQ(10) was quantified by HPLC with electrochemical detection.


RESULTS
Four out of the 6 cases showed muscle CoQ(10) deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ(10) values in fibroblasts when compared with controls.


CONCLUSIONS
Biochemical study of CoQ(10) in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients.
Montero
Raquel
R
Department of Clinical Biochemistry, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III. Barcelona, Spain.
Sánchez-Alcázar
José Antonio
JA
Briones
Paz
P
Hernández
Angeles Rodríguez
AR
Cordero
Mario D
MD
Trevisson
Eva
E
Salviati
Leonardo
L
Pineda
Mercé
M
García-Cazorla
Angels
A
Navas
Plácido
P
Artuch
Rafael
R
D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004579:Electron Transport / Q000502:physiology; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology* / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology*; D013577:Syndrome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000032:analysis / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics
D015415:Biomarkers; D014451:Ubiquinone; C024989:coenzyme Q10