1995
DOI: 10.1093/hmg/4.11.2017
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Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho  transformants

Abstract: Defects of the respiratory chain carrying out oxidative phosphorylation (OXPHOS) are the biochemical hallmark of human mitochondrial disorders. Faulty OXPHOS can be due to mutations in either nuclear or mitochondrial genes, that are involved in the synthesis of individual respiratory subunits or in their post-translational control. The most common mitochondrial disorder of infancy and childhood is Leigh's syndrome, a severe encephalopathy, often associated with a defect of cytochrome c oxidase (COX). In order … Show more

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Cited by 81 publications
(55 citation statements)
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“…In the parental ρ°cells, activity of the 3 complexes containing mtDNA-encoded subunits (complexes I, III, and IV) was undetectable. In contrast, SDH and complex II activity was present in ρ°cells, in agreement with a previous report (39), and was found to be similar to that of the parental 143B cell line. These results were consistent with the fact that all the complex II subunits are nuclear encoded and that mitochondrial import of SDH subunits has been demonstrated in MRC5 ρ°fibroblasts…”
Section: Immunodetection Of Complex I Subunitssupporting
confidence: 92%
See 1 more Smart Citation
“…In the parental ρ°cells, activity of the 3 complexes containing mtDNA-encoded subunits (complexes I, III, and IV) was undetectable. In contrast, SDH and complex II activity was present in ρ°cells, in agreement with a previous report (39), and was found to be similar to that of the parental 143B cell line. These results were consistent with the fact that all the complex II subunits are nuclear encoded and that mitochondrial import of SDH subunits has been demonstrated in MRC5 ρ°fibroblasts…”
Section: Immunodetection Of Complex I Subunitssupporting
confidence: 92%
“…As shown previously (36,39), citrate synthase activity was high in ρ°cells compared with the parental 143B cell line. Contrary to ρ°cells, control cybrid cells (obtained by fusion between ρ°cells and control fibroblasts) exhibited fully active respiratory complexes.…”
supporting
confidence: 85%
“…Normal intramitochondrial accumulation of the complex II subunits was also observed in Chinese hamster mutant cell lines with a defect in mitochondrial protein synthesis (Au and Scheffler 1997). Enzymatic activity of complex II was also normal or slightly decreased in 143B206 0 cells or SFT.12 0 transformant fibroblasts, two different types of human cells fully depleted of mitochondrial DNA (Tiranti et al 1995;Procaccio et al 1999). Immunochemical approaches also revealed that complex II subunits and some nuclear-encoded complex IV subunits are still present in mitochondria from normal fibroblasts depleted of mtDNA by ethidium bromide treatment or from patients' fibroblasts spontaneously exhibiting mtDNA depletion (Marusich et al 1997).…”
Section: Discussionmentioning
confidence: 83%
“…The cells are repopulated by the donor mtDNA and ultimately express a phenotype that is determined in part by the mitochondrial genome of the donor. 0 cells are most often produced by exposing cells in culture to ethidium bromide, a dye that intercalates into DNA and prevents replication (12)(13)(14)(15)(16). Alternate agents such as rhodamine 6G (17), ditercalinium (18), and dideoxycytidine (19) have also been used to deplete cells of mitochondrial DNA.…”
mentioning
confidence: 99%