title: New morphological approaches to the study of mitochondrial encephalomyopathies.
abstract: Molecular genetics, biochemistry, immunology and morphology, are being applied in a coordinated fashion to unveil the molecular basis of the mitochondrial encephalomyopathies. Mutations of mitochondrial DNA (mtDNA) have been found in well characterized clinical groups of these disorders. New and old morphologic methods have been applied to investigate muscle biopsies from patients with mtDNA mutations. Important observations have been made on the cellular localization of normal and mutated mtDNA and on the expression of mtDNA-encoded polypeptides. These observations have provided insight into the pathogenesis of respiratory chain enzyme deficiency at the level of individual muscle fibers. Application of immunocytochemical and in situ hybridization techniques at the electron microscopic level will extend these studies to the level of individual mitochondria.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032.
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: M
authors.initials: M
authors.lastname: Sciacco
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: M
authors.initials: M
authors.lastname: Sparaco
authors.forename: V
authors.initials: V
authors.lastname: Petruzzella
authors.forename: C T
authors.initials: CT
authors.lastname: Moraes
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000032:analysis / Q000096:biosynthesis; D005456:Fluorescent Dyes; D006801:Humans; D017403:In Situ Hybridization; D017237:Mitochondrial Encephalomyopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D013385:Succinate Dehydrogenase / Q000032:analysis / Q000096:biosynthesis
chemical_list: D004272:DNA, Mitochondrial; D005456:Fluorescent Dyes; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV