title: Formation of the enzyme complex in mitochondria is required for function of trifunctional beta-oxidation protein.
abstract: The first Japanese patient with mitochondrial trifunctional protein deficiency has been identified. The patient's alpha and beta-subunits were synthesized, transported into the mitochondria, and converted to the mature size, but rapidly disappeared. The newly synthesized mature alpha and beta-subunits in the control cells were incorporated into the enzyme complex, alpha4beta4, whereas those in the patient's cells were present as monomers. We propose that formation of the enzyme complex is required for stabilization of trifunctional protein.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: K E
authors.initials: KE
authors.lastname: Orii
authors.forename: T
authors.initials: T
authors.lastname: Aoyama
authors.forename: M
authors.initials: M
authors.lastname: Souri
authors.forename: L L
authors.initials: LL
authors.lastname: Jiang
authors.forename: K O
authors.initials: KO
authors.lastname: Orii
authors.forename: S
authors.initials: S
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D001345:Autoradiography; D002250:Carbon Radioisotopes; D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D015151:Immunoblotting; D007564:Japan; D007700:Kinetics; D046911:Macromolecular Substances; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000096:biosynthesis* / Q000172:deficiency* / Q000378:metabolism; D019308:Palmitic Acid; D010169:Palmitic Acids / Q000378:metabolism; D012867:Skin / Q000201:enzymology*
chemical_list: D002250:Carbon Radioisotopes; D046911:Macromolecular Substances; D009097:Multienzyme Complexes; D010169:Palmitic Acids; D019308:Palmitic Acid; D063991:Mitochondrial Trifunctional Protein