2000
DOI: 10.1074/jbc.275.18.13994
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A Pathogenic 15-Base Pair Deletion in Mitochondrial DNA-encoded Cytochrome c Oxidase Subunit III Results in the Absence of Functional Cytochrome c Oxidase

Abstract: A 15-base pair, in-frame, deletion (9480del15) in the mitochondrial DNA (mtDNA)-encoded cytochrome c oxidase subunit III (COX III) gene was identified previously in a patient with recurrent episodes of myoglobinuria and an isolated COX deficiency. Transmitochondrial cell lines harboring 0, 97, and 100% of the 9480del15 deletion were created by fusing human cells lacking mtDNA ( 0 cells) with platelet and lymphocyte fractions isolated from the patient. The COX III gene mutation resulted in a severe respiratory … Show more

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Cited by 50 publications
(34 citation statements)
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“…A few examples in mammals suggest that translation of the COX1 mRNA might be reduced by defects associated with CcO assembly. It has been documented that a 15-base pair deletion in the human mitochondrial COX3 gene (46), as well as lack of cytochrome c in mouse fibroblasts (47) leads to a modest reduction of [ 35 S]methionine labeling of Cox1. However, these studies did not clearly distinguish whether decreased Cox1 labeling was due to reduced synthesis or increased turnover.…”
Section: Discussionmentioning
confidence: 99%
“…A few examples in mammals suggest that translation of the COX1 mRNA might be reduced by defects associated with CcO assembly. It has been documented that a 15-base pair deletion in the human mitochondrial COX3 gene (46), as well as lack of cytochrome c in mouse fibroblasts (47) leads to a modest reduction of [ 35 S]methionine labeling of Cox1. However, these studies did not clearly distinguish whether decreased Cox1 labeling was due to reduced synthesis or increased turnover.…”
Section: Discussionmentioning
confidence: 99%
“…Cells were incubated in DMEM lacking methionine and cysteine and containing 100 mg/mL emetine (Sigma) to inhibit cytoplasmic protein synthesis and labeled for 30 min or 60 min in the presence of 250 mCi of [ 35 S] Easy Tag EXPRE 35 S 35 S Protein Labeling Mix (>1000 Ci/mmole, Perkin-Elmer). Mitochondria were isolated from labeled cells by homogenization and differential centrifugation (Hoffbuhr et al 2000). Protein concentrations were determined using the DC protein assay (Bio-Rad).…”
Section: Analyses Of Mitochondrial Protein Synthesismentioning
confidence: 99%
“…Metabolic labeling of mtDNA-encoded proteins was performed as described (Hoffbuhr et al 2000). Cells were incubated in DMEM lacking methionine and cysteine and containing 100 mg/mL emetine (Sigma) to inhibit cytoplasmic protein synthesis and labeled for 30 min or 60 min in the presence of 250 mCi of [ 35 S] Easy Tag EXPRE 35 S 35 S Protein Labeling Mix (>1000 Ci/mmole, Perkin-Elmer).…”
Section: Analyses Of Mitochondrial Protein Synthesismentioning
confidence: 99%
“…Some act as single protein subunits, but many are combined nuclear-encoded proteins to form multisubunit holoenzymes, like COX or NADH dehydrogenase (Figure-1). The function of these holoenzymes is clearly impaired if contributions from either genome is absent (5). Second, it is known that mtDNA transcription and replication require the import of nuclear gene products, which act as polymerases or transcription factors.…”
Section: Mitochondrial Biogenesis Requers the Corporation Of The Nuclmentioning
confidence: 99%