title: Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies.
abstract: The expression of several mitochondrial and nuclear genes involved in ATP production was examined in cells cultured from muscle biopsies of patients harboring mitochondrial pathologies. The transcript patterns in muscle cells from the patients affected by carnitine palmitoyl transferase II or 2-ketoglutarate dehydrogenase deficiencies were almost similar to control patterns. In the opposite, patterns were strikingly abnormal in all the other cell cultures from patients with defects in enzymatic complexes involved in oxidative phosphorylation: mitochondrial complex II and III deficiencies, two MELAS syndromes (myopathy, encephalopathy, lactic acidosis and stroke like episodes), a case of Kearns-Sayre syndrome and a case of chronic progressive external ophthalmoplegia. In cultured muscle cells from patients with mtDNA mutations, the percentage of mutated mtDNA was low as compared with those determined in the corresponding skeletal muscle biopsy. Moreover, the complex II defect resulting of a nuclear mutation was not expressed in the cell cultures. Thus, an undetermined transcriptional event, transmitted from muscle biopsies to cultured muscle cells, should be involved to account for such abnormal transcript patterns.
authors.affiliation: Centre de Génétique Moléculaire et Cellulaire, UMR-CNRS, Villeurbanne, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Collombet
authors.forename: H
authors.initials: H
authors.lastname: Faure-Vigny
authors.forename: G
authors.initials: G
authors.lastname: Mandon
authors.forename: R
authors.initials: R
authors.lastname: Dumoulin
authors.forename: S
authors.initials: S
authors.lastname: Boissier
authors.forename: A
authors.initials: A
authors.lastname: Bernard
authors.forename: B
authors.initials: B
authors.lastname: Mousson
authors.forename: G
authors.initials: G
authors.lastname: Stepien
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics; D002467:Cell Nucleus / Q000378:metabolism; D002478:Cells, Cultured; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007655:Ketoglutarate Dehydrogenase Complex / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D010085:Oxidative Phosphorylation
chemical_list: D004272:DNA, Mitochondrial; D007655:Ketoglutarate Dehydrogenase Complex; D002334:Carnitine O-Palmitoyltransferase