ArticleThe Biochemical journal2004
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations.
Article in The Biochemical journal, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Physiological research · 2024Pooled it
- Article
- Extremely low-frequency electromagnetic field (ELF-EMF) enhances mitochondrial energy production in NARP cybrids.Scientific reports · 2025Article
- Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease.Cell death & disease · 2024Article
- Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.International journal of molecular sciences · 2024Review
- Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges.Nature reviews. Neurology · 2022Review
- Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNAJournal of clinical laboratory analysis · 2022Article
- Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.Disease models & mechanisms · 2022Article
- The pathogenic m.8993 T > G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase.Human molecular genetics · 2021Article
- Tetracyclines promote survival and fitness in mitochondrial disease models.Nature metabolism · 2021Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism.Scientific reports · 2019Article
- Mutation-specific effects in germline transmission of pathogenic mtDNA variants.Human reproduction (Oxford, England) · 2018Article
- Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.Molecular genetics and metabolism · 2018Article
- Cybrid Models of Pathological Cell Processes in Different Diseases.Oxidative medicine and cellular longevity · 2018Review
- ATP Synthase Diseases of Mitochondrial Genetic Origin.Frontiers in physiology · 2018Review
- A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNAThe Journal of biological chemistry · 2017Article
- A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Nucleic acids research · 2016Article
- Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant.Nucleic acids research · 2016Article
- A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.The Journal of biological chemistry · 2016Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
We analysed key biochemical features that reflect the balance between glycolysis and glucose oxidation in cybrids (cytoplasmic hybrids) harbouring a representative sample of mitochondrial DNA point mutations and deletions. The cybrids analysed had the same 143B cell nuclear background and were isogenic for the mitochondrial background. The 143B cell line and its rho(0) counterpart were used as controls. All cells analysed were in a dynamic state, and cell number, time of plating, culture medium, extracellular volume and time of harvest and assay were strictly controlled. Intra- and extra-cellular lactate and pyruvate levels were measured in homoplasmic wild-type and mutant cells, and correlated with rates of ATP synthesis and O2 consumption. In all mutant cell lines, except those with the T8993C mutation in the ATPase 6 gene, glycolysis was increased even under conditions of low glucose, as demonstrated by increased levels of extracellular lactate and pyruvate. Extracellular lactate levels were strictly and inversely correlated with rates of ATP synthesis and O2 consumption. These results show increased glycolysis and defective oxidative phosphorylation, irrespective of the type or site of the point mutation or deletion in the mitochondrial genome. The different biochemical consequences of the T8993C mutation suggest a uniquely different pathogenic mechanism for this mutation. However, the distinct clinical features associated with some of these mutations still remain to be elucidated.
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