title: Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies.
abstract: In this report we describe that the functional capacity of the mitochondrial oxidative phosphorylation system can be studied in cultured skin fibroblasts permeabilized with a limited amount of digitonin. By using a variety of different oxidizable substrates, information can be obtained on the functional activity of complex I, for instance, which is important since different diseases in man have recently been identified in which complex I is deficient. The method described may contribute to the biochemical characterization of patients suffering from one of a variety of encephalomyopathies.
authors.affiliation: Department of Clinical Biochemistry, University Hospital Amsterdam, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J P
authors.initials: JP
authors.lastname: Ruiter
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
mesh_terms: D000255:Adenosine Triphosphate / Q000096:biosynthesis; D002478:Cells, Cultured; D004072:Digitonin / Q000494:pharmacology; D004305:Dose-Response Relationship, Drug; D005956:Glucose-6-Phosphate Isomerase / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D017237:Mitochondrial Encephalomyopathies / Q000378:metabolism*; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000378:metabolism; D010085:Oxidative Phosphorylation; D010539:Permeability; D012867:Skin / Q000378:metabolism*
chemical_list: D000255:Adenosine Triphosphate; D016660:NAD(P)H Dehydrogenase (Quinone); D005956:Glucose-6-Phosphate Isomerase; D004072:Digitonin