Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes)

Pediatric Research

Volumn 48, Issue 2, 2000, Pages 143-150

  Bakker, Annette ^a   Barthélémy, Cyrille ^a   Frachon, Paule ^a   Chateau, Danielle ^a   Sternberg, Damien ^b   Mazat, Jean Pierre ^c   Lombès, Anne ^a,b  

^a INSERM   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; M PROTEIN; MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; CELL CLONING; CONFOCAL MICROSCOPY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC HETEROGENEITY; HISTOLOGY; HUMAN; HUMAN CELL; MELAS SYNDROME; MEMBRANE POTENTIAL; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS;

EID: 0033934844     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200008000-00005     Document Type: Article

References (23)

1. Biogenesis of mitochondria
2. Disorders of mitochondria and related metabolism
3. Mammalian mitochondrial genetics: Heredity, hetemplasmy, and disease
4. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
5. The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA
6. Segregation of mitochondrial DNA in human somatic cell hybrids
7. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
8. Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles
9. Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction
10. Human mitochondria and mitochondrial genome function as a single dynamic cellular unit
11. Transcomplementation between different types of respiration-deficient mitochondria with different pathogenic mutant mitochondrial DNAs
12. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
13. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
14. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
15. Human cells lacking mtDNA: Repopulatfon with exogenous mitochondria by complementation
16. The mitochondrial tRNA Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
17. Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children
18. Intracellular heterogeneity in mitochondrial membrane potentials revealed by J-aggregate-forming lipophilic cation JC-1
19. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA Leu (UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
20. Myoclonic epilepsy and ragged-red fibers with cytochrome c oxidase deficiency: Neuropathology, biochemistry, and molecular genetics
21. Subunit function in eukaryote cytochrome c oxidase
22. The sorting of mitochondrial DNA and mitochondrial proteins in zygotes: Preferential transmission of mitochondrial DNA to the medial bud