Search results for "mit"

showing 10 items of 11910 documents

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

2018

Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in the mitochondrial DNA (mtDNA) or in any of the 1,500 nuclear genes with a mitochondrial function. We have performed a two-step next-generation sequencing approach in a cohort of 117 patients, mostly children, in whom a mitochondrial disease-cause could likely or possibly explain the phe…

0301 basic medicineMitochondrial DNANuclear genelcsh:QH426-470DISORDERSMitochondrial diseaseBiologyMOLECULAR DIAGNOSISMtDNA sequencingDNA sequencingDISEASEDiagnostic yield03 medical and health sciencesmedicineGeneticsDNA DELETIONSGenetics(clinical)whole-exome sequencingTRANSFER-RNA-SYNTHETASELACTIC-ACIDOSISGeneGenetics (clinical)Exome sequencingOriginal ResearchGeneticsmtDNA sequencingGenetic heterogeneityMUTATIONSASSEMBLY FACTORSmedicine.diseasePhenotypeMitochondrial diseaselcsh:Geneticsmitochondrial disease030104 developmental biologyHUMAN COMPLEX-IWhole-exome sequencingdiagnostic yieldNext-generation sequencingMolecular Medicinenext-generation sequencingLEIGH-SYNDROMEFrontiers in Genetics
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Mitochondrial introgression suggests extensive ancestral hybridization events among Saccharomyces species.

2017

Horizontal gene transfer (HGT) in eukaryotic plastids and mitochondrial genomes is common, and plays an important role in organism evolution. In yeasts, recent mitochondrial HGT has been suggested between S. cerevisiae and S. paradoxus. However, few strains have been explored given the lack of accurate mitochondrial genome annotations. Mitochondrial genome sequences are important to understand how frequent these introgressions occur, and their role in cytonuclear incompatibilities and fitness. Indeed, most of the Bateson-Dobzhansky-Muller genetic incompatibilities described in yeasts are driven by cytonuclear incompatibilities. We herein explored the mitochondrial inheritance of several wor…

0301 basic medicineMitochondrial DNAParadoxusGenomeSaccharomycesHoming endonucleaseElectron Transport Complex IV03 medical and health sciencesOpen Reading FramesSaccharomycesSpecies SpecificityGeneticsMolecular BiologyGeneEcology Evolution Behavior and SystematicsPhylogenybiologyBase SequenceGeographybiology.organism_classificationReticulate evolutionMitochondria030104 developmental biologyHaplotypesEvolutionary biologyHorizontal gene transferGenome Mitochondrialbiology.proteinHybridization GeneticSaccharomyces reticulate evolution mitochondrial introgression selfish elements recombination interspecies hybridizationSequence AlignmentMolecular phylogenetics and evolution
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A Crucial Role of Mitochondrial Dynamics in Dehydration Resistance in Saccharomyces cerevisiae

2021

Mitochondria are dynamic organelles as they continuously undergo fission and fusion. These dynamic processes conduct not only mitochondrial network morphology but also activity regulation and quality control. Saccharomyces cerevisiae has a remarkable capacity to resist stress from dehydration/rehydration. Although mitochondria are noted for their role in desiccation tolerance, the mechanisms underlying these processes remains obscure. Here, we report that yeast cells that went through stationary growth phase have a better survival rate after dehydration/rehydration. Dynamic defective yeast cells with reduced mitochondrial genome cannot maintain the mitochondrial activity and survival rate o…

0301 basic medicineMitochondrial DNASaccharomyces cerevisiae ProteinsQH301-705.5030106 microbiologySaccharomyces cerevisiaeSaccharomyces cerevisiaeMitochondrionyeastMitochondrial DynamicsCatalysisArticleInorganic ChemistryDesiccation tolerance03 medical and health sciencesmedicineDehydrationPhysical and Theoretical ChemistryBiology (General)DesiccationMolecular BiologyQD1-999SpectroscopyMicrobial ViabilitybiologyDehydrationChemistryOrganic ChemistryCell CycleWild typeGeneral Medicinedynamicsmedicine.diseasebiology.organism_classificationYeastComputer Science ApplicationsCell biologyMitochondriaChemistry030104 developmental biologymitochondrial fusionGenome MitochondrialInternational Journal of Molecular Sciences
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The role of mitochondrial reactive oxygen species, NO and H2S in ischaemia/reperfusion injury and cardioprotection

2020

Redox signalling in mitochondria plays an important role in myocardial ischaemia/reperfusion (I/R) injury and in cardioprotection. Reactive oxygen and nitrogen species (ROS/RNS) modify cellular structures and functions by means of covalent changes in proteins including among others S‐nitros(yl)ation by nitric oxide (NO) and its derivatives, and S‐sulphydration by hydrogen sulphide (H2S). Many enzymes are involved in the mitochondrial formation and handling of ROS, NO and H2S under physiological and pathological conditions. In particular, the balance between formation and removal of reactive species is impaired during I/R favouring their accumulation. Therefore, various interventions aimed a…

0301 basic medicineMitochondrial ROSIschemiaEndogenyheartMitochondrionRedoxNitric oxide03 medical and health scienceschemistry.chemical_compound0302 clinical medicinenitric oxidemedicinechemistry.chemical_classificationCardioprotectionreactive oxygen speciesReactive oxygen speciesVDP::Medisinske Fag: 700::Basale medisinske odontologiske og veterinærmedisinske fag: 710Cell Biologymedicine.diseaseVDP::Medical disciplines: 700::Basic medical dental and veterinary science disciplines: 710Cell biologyreperfusionmitochondria030104 developmental biologychemistry030220 oncology & carcinogenesiscardioprotectionMolecular Medicineischaemiahydrogen sulphidecardioprotection; heart; hydrogen sulphide; ischaemia; mitochondria; nitric oxide; reactive oxygen species; reperfusion
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The mitochondrial antioxidant SS-31 increases SIRT1 levels and ameliorates inflammation, oxidative stress and leukocyte-endothelium interactions in t…

2018

AbstractThere is growing focus on mitochondrial impairment and cardiovascular diseases (CVD) in type 2 diabetes (T2D), and the development of novel therapeutic strategies in this context. It is unknown whether mitochondrial-targeting antioxidants such as SS-31 protect sufficiently against oxidative damage in diabetes. We aimed to evaluate if SS-31 modulates SIRT1 levels and ameliorates leukocyte-endothelium interactions, oxidative stress and inflammation in T2D patients. Anthropometric and metabolic parameters were studied in 51 T2D patients and 57 controls. Production of mitochondrial reactive oxygen species (ROS), mitochondrial membrane potential, glutathione content, leukocyte-endotheliu…

0301 basic medicineMitochondrial ROSMaleAntioxidantendocrine system diseasesmedicine.medical_treatmentMitochondrionPharmacologymedicine.disease_causeAntioxidantsLeukocyte-endothelial Interactionschemistry.chemical_compoundSirtuin 1Leukocyteschemistry.chemical_classificationMembrane Potential MitochondrialMultidisciplinaryQRMiddle AgedMitochondriaUp-RegulationMedicineFemalemedicine.symptomOligopeptidesRolling FluxScienceInflammationContext (language use)SIRT1 LevelsArticle03 medical and health sciencesmedicineCell AdhesionHuman Umbilical Vein Endothelial CellsHumansAgedInflammationReactive oxygen speciesTranscription Factor RelAGlutathioneSirtuins (SIRT1)Oxidative Stress030104 developmental biologychemistryDiabetes Mellitus Type 2Case-Control StudiesReactive Oxygen SpeciesLeukocyte Rolling VelocityOxidative stressScientific Reports
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The mitochondria-targeted antioxidant MitoQ modulates oxidative stress, inflammation and leukocyte-endothelium interactions in leukocytes isolated fr…

2016

It is not known if the mitochondria-targeted antioxidants such as mitoquinone (MitoQ) can modulate oxidative stress and leukocyte-endothelium interactions in T2D patients. We aimed to evaluate the beneficial effect of MitoQ on oxidative stress parameters and leukocyte-endothelium interactions in leukocytes of T2D patients. The study population consisted of 98 T2D patients and 71 control subjects. We assessed metabolic and anthropometric parameters, mitochondrial reactive oxygen species (ROS) production, glutathione peroxidase 1 (GPX-1), NFκB-p65, TNFα and leukocyte-endothelium interactions. Diabetic patients exhibited higher weight, BMI, waist circumference, SBP, DBP, glucose, insulin, HOMA…

0301 basic medicineMitochondrial ROSMaleGPX1Antioxidantendocrine system diseasesUbiquinonemedicine.medical_treatmentBMI body mass indexClinical BiochemistryLDL low density lipoprotein cholesterolAnti-Inflammatory AgentsTPP triphenylphosphonium030204 cardiovascular system & hematologyPharmacologymedicine.disease_causeBiochemistryMitoQAntioxidantschemistry.chemical_compound0302 clinical medicineGlutathione Peroxidase GPX1IR insulin resistanceLeukocyteslcsh:QH301-705.5chemistry.chemical_classificationlcsh:R5-920AnthropometryChemistryGlutathione peroxidaseType 2 diabetesMiddle AgedFemalemedicine.symptomlcsh:Medicine (General)Research PaperPMN polymorphonuclear leukocyteshs-CRP high-sensitive C-reactive proteinHOMA-IR homeostasis model assessment of insulin resistanceInflammationT2D type 2 diabetes03 medical and health sciencesOrganophosphorus CompoundsmedicineDBP diastolic blood pressure HbA1c glycated hemoglobinHUVEC human umbilical vein endothelial cellsHumansEndotheliumAgedInflammationReactive oxygen speciesMitoQGlutathione PeroxidaseTumor Necrosis Factor-alphaSBP systolic blood pressureOrganic ChemistryTranscription Factor RelAnutritional and metabolic diseasesHDL high density lipoprotein cholesterolOxidative Stress030104 developmental biologylcsh:Biology (General)Diabetes Mellitus Type 2ImmunologyReactive Oxygen SpeciesOxidative stressRedox Biology
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Does Metformin Protect Diabetic Patients from Oxidative Stress and Leukocyte-Endothelium Interactions?

2017

Since metformin can exert beneficial vascular effects, we aimed at studying its effect on reactive oxygen species (ROS) production, antioxidant enzyme expression, levels of adhesion molecules, and leukocyte-endothelium interactions in the leukocytes from type 2 diabetic (T2D) patients. The study was carried out in 72 T2D patients (41 of whom were treated with metformin for at least 12 months at a dose of 1700 mg per day), and in 40 sex- and age-matched control subjects. Leukocytes from T2D patients exhibited enhanced levels of mitochondrial ROS and decreased mRNA levels of glutathione peroxidase 1 (gpx1) and sirtuin 3 (sirt3) with respect to controls, whereas metformin was shown to revert t…

0301 basic medicineMitochondrial ROSMaleGPX1endocrine system diseasesPhysiologyClinical Biochemistry030204 cardiovascular system & hematologymedicine.disease_causeBiochemistry0302 clinical medicineSuperoxide Dismutase-1Glutathione Peroxidase GPX1Sirtuin 3LeukocytesGeneral Environmental Sciencechemistry.chemical_classificationbiologyMiddle AgedCatalaseIntercellular Adhesion Molecule-1MetforminMetforminP-SelectinCatalaseFemalemedicine.drugmedicine.medical_specialtySIRT3Superoxide dismutase03 medical and health sciencesInternal medicinemedicineCell AdhesionHumansHypoglycemic AgentsMolecular BiologyAgedReactive oxygen speciesGlutathione Peroxidasenutritional and metabolic diseasesEndothelial CellsCell BiologyOxidative Stress030104 developmental biologyEndocrinologychemistryDiabetes Mellitus Type 2biology.proteinGeneral Earth and Planetary SciencesReactive Oxygen SpeciesOxidative stressAntioxidantsredox signaling
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Revisiting the Warburg effect: historical dogma versus current understanding

2020

Contrary to Warburg's original thesis, accelerated aerobic glycolysis is not a primary, permanent and universal consequence of dysfunctional or impaired mitochondria compensating for poor ATP yield per mole of glucose. Instead, in most tumours the Warburg effect is an essential part of a 'selfish' metabolic reprogramming, which results from the interplay between (normoxic/hypoxic) hypoxia-inducible factor-1 (HIF-1) overexpression, oncogene activation (cMyc, Ras), loss of function of tumour suppressors (mutant p53, mutant phosphatase and tensin homologue (PTEN), microRNAs and sirtuins with suppressor functions), activated (PI3K-Akt-mTORC1, Ras-Raf-MEK-ERK-cMyc, Jak-Stat3) or deactivated (LKB…

0301 basic medicineMitochondrial ROSPhysiologyCellular respirationChemistryMitochondrionWarburg effectCell biologyddc:Citric acid cycle03 medical and health sciencesPhosphatidylinositol 3-Kinases030104 developmental biology0302 clinical medicineGlucoseMitochondrial biogenesisAnaerobic glycolysisNeoplasmsTumor MicroenvironmentHumansGlycolysisGlycolysis030217 neurology & neurosurgery
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Insulin Resistance in PCOS Patients Enhances Oxidative Stress and Leukocyte Adhesion: Role of Myeloperoxidase

2016

Cardiovascular diseases and oxidative stress are related to polycystic ovary syndrome (PCOS) and insulin resistance (IR). We have evaluated the relationship between myeloperoxidase (MPO) and leukocyte activation in PCOS patients according to homeostatic model assessment of IR (HOMA-IR), and have explored a possible correlation between these factors and endocrine and inflammatory parameters. This was a prospective controlled study conducted in an academic medical center. The study population consisted of 101 PCOS subjects and 105 control subjects. We divided PCOS subjects into PCOS non-IR (HOMA-IR2.5). Metabolic and anthropometric parameters, total and mitochondrial reactive oxygen species (…

0301 basic medicineMitochondrial ROSendocrine system diseasesmedicine.medical_treatment030204 cardiovascular system & hematologyPathology and Laboratory Medicinemedicine.disease_causeBiochemistryWhite Blood CellsFluorescence MicroscopyEndocrinology0302 clinical medicineAnimal CellsMedicine and Health SciencesLeukocytesInsulinImmune ResponseEnergy-Producing OrganellesMicroscopyMultidisciplinaryQRLight MicroscopyPolycystic ovaryMitochondriaOncologyMyeloperoxidaseHomeostatic model assessmentCytokinesMedicineFemaleCellular TypesCellular Structures and OrganellesInflammation MediatorsResearch ArticlePolycystic Ovary SyndromeAdultmedicine.medical_specialtyAdhesion MoleculesImmune CellsScienceImmunologyBioenergeticsBiologyResearch and Analysis MethodsProinflammatory cytokineYoung Adult03 medical and health sciencesSigns and SymptomsInsulin resistanceDiagnostic MedicineInternal medicineCell AdhesionmedicineHumansPeroxidaseInflammationDiabetic EndocrinologyBlood CellsInsulinBiology and Life SciencesCancers and Neoplasmsnutritional and metabolic diseasesCell BiologyMolecular Developmentmedicine.diseaseHormonesOxidative Stress030104 developmental biologyEndocrinologybiology.proteinInsulin ResistanceReactive Oxygen SpeciesGynecological TumorsOxidative stressDevelopmental Biology
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Ribosome-Targeting Antibiotics Impair T Cell Effector Function and Ameliorate Autoimmunity by Blocking Mitochondrial Protein Synthesis

2019

Summary While antibiotics are intended to specifically target bacteria, most are known to affect host cell physiology. In addition, some antibiotic classes are reported as immunosuppressive for reasons that remain unclear. Here, we show that Linezolid, a ribosomal-targeting antibiotic (RAbo), effectively blocked the course of a T cell-mediated autoimmune disease. Linezolid and other RAbos were strong inhibitors of T helper-17 cell effector function in vitro, showing that this effect was independent of their antibiotic activity. Perturbing mitochondrial translation in differentiating T cells, either with RAbos or through the inhibition of mitochondrial elongation factor G1 (mEF-G1) progressi…

0301 basic medicineMitochondrial translationmedicine.medical_treatmentT-LymphocytesCellMitochondrionmedicine.disease_causeRibosomemitochondrial translationOxidative PhosphorylationantibioticsAutoimmunityACTIVATIONMice0302 clinical medicineribosome-targetingMedicine and Health SciencesImmunology and AllergyTRANSCRIPTION FACTORMolecular Targeted TherapyMice Knockout0303 health sciencesEffectorExperimental autoimmune encephalomyelitisautoimmunityCell DifferentiationPeptide Elongation Factor GAnti-Bacterial Agents3. Good healthCell biologymitochondriaInfectious DiseasesCytokinemedicine.anatomical_structureRESPIRATION030220 oncology & carcinogenesisEncephalomyelitis Autoimmune ExperimentalMultiple SclerosisT cellImmunologyINHIBITIONT cellsBiologyOXAZOLIDINONEPeptides CyclicArticleMitochondrial Proteins03 medical and health sciencesNAD+medicineAnimalsHumanselongation factor G1030304 developmental biologyAutoimmune diseaseBacteriaLinezolidBiology and Life SciencesPATHWAYSDNANADmedicine.diseaseIn vitroMice Inbred C57BL030104 developmental biologyTh17 CellsArgyrinCHLORAMPHENICOLMEMBRANERibosomesImmunity
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