title: Mitochondrial encephalomyopathies: biochemical approach.
abstract: Thanks to recent advances in the molecular genetics of mitochondrial encephalomyopathies, we can now begin to correlate genetic lesions with biochemical defects. In the fatal infantile myopathy due to cytochrome c oxidase (COX) deficiency, an autosomal recessive condition, immunocytochemical studies have shown an isolated defect of subunit VIIa, which is 1 of the only 2 tissue-specific subunits of human COX. In muscle biopsies from patients with Kearns-Sayre syndrome, a multisystem disorder characterized by deletions of the mitochondrial DNA (mtDNA), the activities of all mitochondrial enzymes containing mtDNA-encoded subunits are decreased. The results of Northern analysis, in situ hybridization, and immunocytochemistry in muscle, and of mitochondrial protein synthesis in cultured fibroblasts suggest that partially deleted mtDNAs are transcribed but not translated, probably due to lack of indispensable tRNAs.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York.
authors.forename: S
authors.initials: S
authors.lastname: Dimauro
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: A
authors.initials: A
authors.lastname: Lombes
authors.forename: H
authors.initials: H
authors.lastname: Nakase
authors.forename: S
authors.initials: S
authors.lastname: Mita
authors.forename: H J
authors.initials: HJ
authors.lastname: Tritschler
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: A F
authors.initials: AF
authors.lastname: Miranda
authors.forename: E A
authors.initials: EA
authors.lastname: Schon
mesh_terms: D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008931:Mitochondria, Muscle / Q000502:physiology*; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV