ArticleBBA clinical2014
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.
Article in BBA clinical, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Analyzing mitochondrial function in human peripheral blood mononuclear cells.Analytical biochemistry · 2018Trial
- Effects of Vericiguat on the Mitochondrial Function and Clinical Outcomes in CRT Nonresponders Patients.JACC. Advances · 2026Article
- Bioenergetic profiles and respiratory control in mitochondrial physiology: Precision analysis of oxidative phosphorylation.Experimental physiology · 2026Article
- Mitochondrial respiration in peripheral blood mononuclear cells of healthy adult population.PloS one · 2026Article
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.PloS one · 2025Article
- Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.Journal of inherited metabolic disease · 2024Review
- Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibers.Heliyon · 2024Article
- CytochromeProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Coenzyme Q10: A Biomarker in the Differential Diagnosis of Parkinsonian Syndromes.Antioxidants (Basel, Switzerland) · 2023Article
- Identification of peripheral vascular function measures and circulating biomarkers of mitochondrial function in patients with mitochondrial disease.Clinical and translational science · 2023Article
- Utilization of Human Samples for Assessment of Mitochondrial Bioenergetics: Gold Standards, Limitations, and Future Perspectives.Life (Basel, Switzerland) · 2021Review
- Mortality of septic shock patients is associated with impaired mitochondrial oxidative coupling efficiency in lymphocytes: a prospective cohort study.Intensive care medicine experimental · 2021Article
- CytochromeCells · 2020Article
- Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.Pediatric research · 2018Article
- Remodeling pathway control of mitochondrial respiratory capacity by temperature in mouse heart: electron flow through the Q-junction in permeabilized fibers.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMitochondrial diseases belong to the most severe inherited metabolic disorders affecting pediatric population. Despite detailed knowledge of mtDNA mutations and progress in identification of affected nuclear genes, diagnostics of a substantial part of mitochondrial diseases relies on clinical symptoms and biochemical data from muscle biopsies and cultured fibroblasts.
methodsTo investigate manifestation of oxidative phosphorylation defects in isolated lymphocytes, digitonin-permeabilized cells from 48 children were analyzed by high resolution respirometry, cytofluorometric detection of mitochondrial membrane potential and immunodetection of respiratory chain proteins with SDS and Blue Native electrophoreses.
resultsEvaluation of individual respiratory complex activities, ATP synthesis, kinetic parameters of mitochondrial respiratory chain and the content and subunit composition of respiratory chain complexes enabled detection of inborn defects of respiratory complexes I, IV and V within 2 days. Low respiration with NADH-dependent substrates and increased respiration with glycerol-3-phosphate revealed complex I defects; changes in p 50 for oxygen and elevated uncoupling control ratio pointed to complex IV deficiency due to SURF1 or SCO2 mutation; high oligomycin sensitivity of state 3-ADP respiration, upregulated mitochondrial membrane potential and low content of complex V were found in lymphocytes with ATP synthase deficiency due to TMEM70 mutations.
conclusionBased on our results, we propose the best biochemical parameters predictive for defects of respiratory complexes I, IV and V manifesting in peripheral blood lymphocytes. GENERAL SIGNIFICANCE: The noninvasiveness, reliability and speed of an approach utilizing novel biochemical criteria demonstrate the high potential of isolated lymphocytes for diagnostics of oxidative phosphorylation disorders in pediatric patients.
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