title: Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.
abstract: Pyruvate dehydrogenase complex was studied using bio- and immunochemical methods in cultured cells derived from two patients with the severe type and one patient with the mild type of pyruvate dehydrogenase complex deficiency. In patients 1 and 2, enzyme activity was all but undetectable and associated with the absence of E1 alpha subunit of the complex. Patient 3 had a slightly reduced level of enzyme activity, and this was associated with a larger form of E1 alpha subunit. The amount and size of E1 alpha mRNA in the three patients was similar to that of control samples. Thus, the severity of E1 alpha deficiency in these three patients is likely to depend on the type of mutation in the pyruvate dehydrogenase E1 alpha subunit and the synthesis and degradation rate of the subunit.
authors.affiliation: Department of Pediatrics, Kumamoto University Medical School, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kitano
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
authors.forename: S
authors.initials: S
authors.lastname: Miyabayashi
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
mesh_terms: D002478:Cells, Cultured; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000201:enzymology; D010446:Peptide Fragments / Q000235:genetics; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics* / Q000378:metabolism; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000201:enzymology / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics*
chemical_list: D010446:Peptide Fragments; D011768:Pyruvate Dehydrogenase Complex