title: Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
abstract: Propionic acidemia can result from mutations in the PCCA or PCCB genes encoding the alpha and beta subunits, respectively, of propionyl-CoA carboxylase. We have developed a method based on complementation of the enzyme defect using a lipid-mediated transient transfection of the normal human PCCA or PCCB cDNA into primary fibroblasts. We demonstrate the reliability of this method for identification of the defective PCC gene in order to unequivocally approach the mutational analysis in the corresponding PCCA and PCCB genes.
authors.affiliation: Centro de Diagnóstico de Enfermedades Moleculares, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Rodriguez-Pombo
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: L R
authors.initials: LR
authors.lastname: Desviat
authors.forename: B
authors.initials: B
authors.lastname: Pérez
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
authors.forename: P
authors.initials: P
authors.lastname: Rodríguez-Pombo
mesh_terms: D002262:Carboxy-Lyases / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D015971:Gene Expression Regulation, Enzymologic; D005816:Genetic Complementation Test; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D043586:Methylmalonyl-CoA Decarboxylase; D009154:Mutation; D010957:Plasmids / Q000235:genetics; D011422:Propionates / Q000097:blood*; D014162:Transfection
chemical_list: D011422:Propionates; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid