1994
DOI: 10.1128/mcb.14.4.2699
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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.

Abstract: The rules that govern complementation of mutant and wild-type mitochondrial genomes in human cells were investigated under different experimental conditions. Among mitochondrial transformants derived from an individual affected by the MERRF (myoclonus epilepsy associated with ragged red fibers) encephalomyopathy and carrying in heteroplasmic form the mitochondrial tRNALYS mutation associated with that syndrome, normal protein synthesis and respiration was observed when the wild-type mitochondrial DNA exceeded … Show more

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Cited by 163 publications
(127 citation statements)
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“…This result is due to a complete loss of codon-anticodon pairing on the ribosome (21), because the 2-thio modification of the wobble base is known to be critical for decoding AAR codons (32). This result explains why MERRF patients show a marked defect in whole mitochondrial translation (21,50,51). Thus, the different symptoms exhibited by MELAS and MERRF patients may be explained by the fact that the mutant tRNAs lacking the wobble modification in these patients show a distinct pattern of codon recognition (Fig.…”
Section: Discussionmentioning
confidence: 77%
“…This result is due to a complete loss of codon-anticodon pairing on the ribosome (21), because the 2-thio modification of the wobble base is known to be critical for decoding AAR codons (32). This result explains why MERRF patients show a marked defect in whole mitochondrial translation (21,50,51). Thus, the different symptoms exhibited by MELAS and MERRF patients may be explained by the fact that the mutant tRNAs lacking the wobble modification in these patients show a distinct pattern of codon recognition (Fig.…”
Section: Discussionmentioning
confidence: 77%
“…However, it was possible that nuclear DNA mutations were involved in expression of respiration defects in these patients, because respiratory function is controlled by both nuclear DNA and mtDNA (1,2). Subsequent studies excluded this possibility by showing cotransmission of the mutated mtDNAs and respiration defects from the patients to mtDNA-less human cells (3)(4)(5)(6).…”
mentioning
confidence: 99%
“…In investigations carried out in this laboratory (18), two mtDNAs, each carrying a recessive mutation in a different mitochondrial tRNA gene, i.e. the tRNA Lys gene mutation associated with the myclonic epilepsy and ragged red fiber (MERRF) encephalomyopathy (19) and the tRNA Leu(UUR) gene mutation associated with the mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) encephalomyopathy (20,21), were independently introduced into the same human mtDNA-less ( 0 ) cell (143B.…”
mentioning
confidence: 99%