Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies.
Coenzyme Q10 content, pathology evaluation, and electron transport chain (ETC) enzyme analysis were determined in muscle biopsy specimens of 82 children with suspected mitochondrial myopathy. Data were stratified into three groups: "probable" ETC defects, "possible" ETC defects, and disease controls. Muscle total, oxidized, and reduced coenzyme Q10 concentrations were significantly decreased in the probable defect group. Stepwise logistic regression indicated that only total coenzyme Q10 was significantly associated with probable ETC defect. Receiver operator characteristic (ROC) analysis suggested that total muscle coenzyme Q10 was the best predictor of an ETC complex abnormality. Determination of muscle coenzyme Q10 deficiency in children with suspected mitochondrial disease may facilitate diagnosis and encourage earlier supplementation of this agent.
Miles
Michael V
MV
Department of Pediatrics, University of Cincinnati, College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA. michael.miles@cchmc.org <michael.miles@cchmc.org>
Miles
Lili
L
Tang
Peter H
PH
Horn
Paul S
PS
Steele
Paul E
PE
DeGrauw
Antonius J
AJ
Wong
Brenda L
BL
Bove
Kevin E
KE
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D045222:Electron Transport Chain Complex Proteins / Q000172:deficiency; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017240:Mitochondrial Myopathies / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000737:chemistry*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000378:metabolism
D045222:Electron Transport Chain Complex Proteins; D014451:Ubiquinone; C024989:coenzyme Q10