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Fatty acid oxidation in fibroblasts from patients with defects in β‐oxidation and in the respiratory chain
Author(s) -
Venizelos N.,
Döbeln U.,
Hagenfeldt L.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005310809714
Subject(s) - beta oxidation , respiratory chain , respiratory system , mitochondrial respiratory chain , chemistry , long chain fatty acid , mitochondrion , fatty acid , cofactor , biochemistry , medicine , enzyme
Fatty acid oxidation has been studied with the tritium release assay in cultured fibroblasts from patients with defects in β‐oxidation and in the mitochondrial respiratory chain. Cells from all patients with β‐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 β‐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.