Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain.
Fatty acid oxidation has been studied with the tritium release assay in cultured fibroblasts from patients with defects in beta-oxidation and in the mitochondrial respiratory chain. Cells from all patients with beta-oxidation defects and cells from 10 of 16 patients with respiratory chain defects showed an impairment of fatty acid oxidation. The result of the tritium release assay is not only dependent on the proper function of the beta-oxidation cycle but is also influenced by the reoxidation of reduced cofactors. The assay can thus be used to study the expression of respiratory chain defects in cultured fibroblasts.
Division of Clinical Chemistry, Karolinska Institutet, Huddinge University Hospital, Sweden.
N
N
Venizelos
U
U
von Döbeln
L
L
Hagenfeldt
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000378:metabolism; D042964:Acyl-CoA Dehydrogenase; D000293:Adolescent; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D004579:Electron Transport; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism*; D010084:Oxidation-Reduction; D010168:Palmitates / Q000378:metabolism
D005227:Fatty Acids; D010168:Palmitates; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase