Search results for "Mitochondria"

showing 10 items of 1306 documents

Mechanism of Free Radical Production in Exhaustive Exercise in Humans and Rats; Role of Xanthine Oxidase and Protection by Allopurinol

2000

Exhaustive exercise generates free radicals, However, the source of this oxidative damage remains controversial. The aim of this paper was to study further the mechanism of exercise-induced production of free radicals, Testing the hypothesis that xanthine oxidase contributes to the production of free radicals during exercise, me found not only that exercise caused an increase in blood xanthine oxidase activity in rats but also that inhibiting xanthine oxidase with allopurinol prevented exercise-induced oxidation of glutathione in both rats and in humans. Furthermore, inhibiting xanthine oxidase prevented the increases in the plasma activity of cytosolic enzymes (lactate dehydrogenase, aspar…

AdultMaleXanthine OxidaseFree RadicalsAllopurinolPhysical ExertionClinical BiochemistryAllopurinolOxidative phosphorylationallopurinolPharmacologyMitochondrionmedicine.disease_causeBiochemistrychemistry.chemical_compoundphysical exerciseMalondialdehydeGeneticsmedicineoxidative stressAnimalsHumansAspartate AminotransferasesEnzyme InhibitorsRats WistarMuscle SkeletalXanthine oxidaseCreatine KinaseExerciseMolecular BiologyOxidase testL-Lactate DehydrogenaseFree Radical ScavengersCell BiologyGlutathioneXanthineGlutathioneMitochondriaRatsOxidative StressLiverchemistryBiochemistryxanthine oxidaseOxidative stressmedicine.drugIUBMB Life (International Union of Biochemistry and Molecular Biology: Life)
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Point mutations associated with Leber hereditary optic neuropathy in a Latvian population

2013

Purpose To study mutations associated with Leber hereditary optic neuropathy (LHON) in patients suspected of having this mitochondrial disorder in a Latvian population. Additional aims were to determine the heteroplasmy status of all non-synonymous polymorphisms identified in the current study and to identify the mitochondrial haplogroups of the studied participants because these factors may contribute to the manifestation of LHON. Methods Twelve patients, including patients in two families, were enrolled in the current study. LHON was suspected based on the findings of ophthalmologic examinations. In clinically affected individuals, the presence of all previously reported LHON-associated m…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesPolymorphism Geneticgenetic structuresnutritional and metabolic diseasesOptic Atrophy Hereditary LeberSequence Analysis DNAMiddle AgedDNA MitochondrialLatviaeye diseasesWhite PeopleMitochondriaPedigreeHaplotypesHumansPoint MutationFemaleResearch Article
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AZT treatment induces molecular and ultrastructural oxidative damage to muscle mitochondria. Prevention by antioxidant vitamins.

1998

AIDS patients who receive zidovudine (AZT) frequently suffer from myopathy. This has been attributed to mitochondrial (mt) damage, and specifically to the loss of mtDNA. This study examines whether AZT causes oxidative damage to DNA in patients and to skeletal muscle mitochondria in mice, and whether this damage may be prevented by supranutritional doses of antioxidant vitamins. Asymptomatic HIV-infected patients treated with AZT have a higher urinary excretion (355+/-100 pmol/kg/d) of 8-oxo-7, 8-dihydro-2'-deoxyguanosine (8-oxo-dG) (a marker of oxidative damage to DNA) than untreated controls (asymptomatic HIV-infected patients) (182+/-29 pmol/kg/d). This was prevented (110+/-79 pmol/kg/d)…

AdultMalemedicine.medical_specialtyDNA damageAnti-HIV Agentsmedicine.medical_treatmentAscorbic AcidBiologyDNA MitochondrialAntioxidantsZidovudinechemistry.chemical_compoundMiceInternal medicinemedicineDeoxyguanosineAnimalsHumansVitamin Eheterocyclic compoundsMyopathyVitamin ESkeletal musclevirus diseasesDeoxyguanosineGeneral MedicineGlutathioneHydrogen PeroxideAscorbic acidMitochondria Musclemedicine.anatomical_structureEndocrinologychemistryBiochemistry8-Hydroxy-2'-Deoxyguanosinemedicine.symptomZidovudinemedicine.drugDNA DamageResearch ArticleThe Journal of clinical investigation
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Urinary 8-oxo-7,8-dihydro-2′-deoxyguanosine (8-oxo-dG), a reliable oxidative stress marker in hypertension

2007

The potential use of oxidative stress products as disease markers and progression is an important aspect of biomedical research. In the present study, the quantification of urine 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxo-dG) concentration has been used to express the oxidation status of hypertensive subjects. 8-oxo-dG has been simultaneously isolated and assayed in nuclear (nDNA) and mitochondrial DNA (mtDNA). In addition, oxidative stress of mononuclear cells has been estimated by means of GSH and GSSG levels and GSSG/GSH ratio in hypertensive subjects before and after antihypertensive treatment. It is shown that oxidative stress decreases significantly in hypertensive patients after trea…

AdultMalemedicine.medical_specialtyDNA damageUrinary systemUrinemedicine.disease_causeDNA MitochondrialBiochemistryPeripheral blood mononuclear cellchemistry.chemical_compoundInternal medicinemedicineHumansDeoxyguanosineChromatography High Pressure LiquidCell NucleusGlutathione DisulfideDeoxyguanosineGeneral MedicineGlutathioneGlutathioneOxidative StressEndocrinologychemistryBiochemistry8-Hydroxy-2'-DeoxyguanosineHypertensionGlutathione disulfideFemaleBiomarkersOxidative stressFree Radical Research
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The UCP2 -866 G>A promoter region polymorphism is associated with nonalcoholic steatohepatitis

2015

Background & Aims Uncoupling protein 2 - UCP2 - regulates mitochondrial lipid fluxes and reactive oxygen species production by the respiratory chain. The −866 G>A UCP2 promoter region polymorphism has been linked to insulin resistance and lipid metabolism. The aim of this study was to assess whether the −866 G>A UCP2 polymorphism predisposes to nonalcoholic steatohepatitis in patients at risk, and the relationship with lipid metabolism and hepatic UCP2 expression. Methods We considered 688 Italian patients who underwent liver biopsy for suspected NASH, and 232 healthy controls. The UCP2 −866 G>A polymorphism was determined by allele specific oligonucleotide probes, hepatic UCP2 mRNA levels …

AdultMalemedicine.medical_specialtyGenotypeRespiratory chainGene ExpressionBiologyIon ChannelsMitochondrial Proteinsgenetic polymorphism; lipid metabolism;liver; mitochondria; nonalcoholic steatohepatitis; uncoupling protein-2Insulin resistanceNon-alcoholic Fatty Liver DiseaseRisk FactorsDiabetes mellitusInternal medicineGenotypemedicineHumansUncoupling Protein 2Promoter Regions GeneticUncoupling protein-2AllelesAgedPolymorphism GeneticGenetic polymorphismmedicine.diagnostic_testHepatologyLipid metabolismMiddle Agedmedicine.diseaseImpaired fasting glucoseMitochondriaEndocrinologyLogistic ModelsLipid metabolismLiverLiver biopsyCase-Control StudiesFemaleSteatosisInsulin ResistanceNonalcoholic steatohepatiti
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Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Low-intensity exercise stimulates bioenergetics and increases fat oxidation in mitochondria of blood mononuclear cells from sedentary adults.

2020

Aim Exercise training induces adaptations in muscle and other tissue mitochondrial metabolism, dynamics, and oxidative phosphorylation capacity. Mitochondrial fatty acid oxidation was shown to be pivotal for the anti‐inflammatory status of immune cells. We hypothesize that exercise training can exert effects influence mitochondrial fatty acid metabolism in peripheral blood mononuclear cells (PBMCs). The aim was to investigate the effect of exercise on the fatty acid oxidation‐dependent respiration in PBMCs. Design Twelve fasted or fed volunteers first performed incremental‐load exercise tests to exhaustion on a cycle ergometer to determine the optimal workload ensuring maximal health benefi…

AdultMalemedicine.medical_specialtyobesityBioenergeticsPhysiologyImmunologyOxidative phosphorylation030204 cardiovascular system & hematologylcsh:Physiologyexercise fat metabolism lipolysis obesity sedentary adultsSignalling Pathways03 medical and health sciences0302 clinical medicinePhysiology (medical)Internal medicineRespirationHeart ratemedicineMetabolism and RegulationLipolysisHumansBeta oxidationSedentary lifestyleOriginal Researchchemistry.chemical_classificationlcsh:QP1-981exercisebusiness.industryEndurance and PerformanceFatty Acidsfat metabolismFatty acidFastingsedentary adultsLipid MetabolismMitochondriaEndocrinologychemistryExercise TestLeukocytes MononuclearPhysical EndurancelipolysisFemaleSedentary BehaviorbusinessEnergy MetabolismOxidation-Reduction030217 neurology & neurosurgeryPhysiological reports
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Respiratory chain polymorphisms and obesity in the Spanish population, a cross-sectional study

2019

ObjectiveTo study the association of genes involved in the mitochondrial respiratory chain (MRC) pathway with body mass index (BMI) and obesity risk.DesignThis work studies three cross-sectional populations from Spain, representing three provinces: HORTEGA (Valladolid, Northwest/Centre), SEGOVIA (Segovia, Northwest/centre) and PIZARRA (Malaga,South).SettingForty-eight single nucleotide polymorphisms (SNPs) from MRC genes were selected and genotyped by SNPlex method. Association studies with BMI and obesity risk were performed for each population. These associations were then verified by analysis of the studied population as a whole (3731 samples).ParticipantsA total of 3731 Caucasian indivi…

AdultMaleobesityGenotypeCross-sectional studyPopulationRespiratory chainmitochondrial respiratory chain030209 endocrinology & metabolismSingle-nucleotide polymorphismPolymorphism Single NucleotideWhite PeopleBody Mass IndexMitochondrial Proteins03 medical and health sciences0302 clinical medicineRisk FactorsMedicineHumans1506educationAlleles030304 developmental biologyGenetic associationAged0303 health scienceseducation.field_of_studybusiness.industryResearch1697Genetics and GenomicssnpGeneral MedicineMiddle Agedmedicine.diseaseObesityMitochondrial respiratory chainCross-Sectional StudiesElectron Transport Chain Complex ProteinsSpainFemalebusinessBody mass indexDemographyBMJ Open
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Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase

1987

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues reveale…

AdultPathologymedicine.medical_specialtyMalabsorptionGastrointestinal DiseasesEncephalopathyRespiratory chainCytochrome-c Oxidase DeficiencyEyePathology and Forensic Medicine03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineMuscular DiseasesMitochondrial myopathymedicineHumansMuscular dystrophy030304 developmental biology2. Zero hungerBrain Diseases0303 health sciencesbusiness.industryPeripheral Nervous System DiseasesSyndromemedicine.diseaseMitochondria MusclePeripheral neuropathyLactic acidosisFemaleNeurology (clinical)businessPolyneuropathy030217 neurology & neurosurgeryActa Neuropathologica
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Maternally inherited diabetes and deafness (MIDD): unusual occult exocrine pancreatic manifestation in an affected German family

2000

The mitochondrial (mt) 3243 DNA mutation is an underlying cause of maternally inherited diabetes and deafness (MIDD) syndrome and the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). We report an affected German MIDD pedigree with maternal lineage over three generations. The index patient, her mother, her maternal aunt and her maternal grandmother all suffered from diabetes and premature hearing loss and were positive on testing for the mt 3243 DNA mutation. The 27-year-old index patient had a history of grand mal seizures. As sequela of abdominal ultrasound and confirmed by magnetic resonance cholangio-pancreaticography, she was diagnose…

AdultPathologymedicine.medical_specialtyPancreatic diseaseEndocrinology Diabetes and MetabolismEncephalopathyDeafnessMELAS syndromeDNA MitochondrialDiabetes ComplicationsEndocrinologyMitochondrial myopathyGermanyDiabetes MellitusInternal MedicineHumansMedicinePancreatic ductCommon bile ductbusiness.industryPancreatic DuctsCalcinosisPancreatic DiseasesSyndromeGeneral MedicineMiddle Agedmedicine.diseasePedigreemedicine.anatomical_structurePancreatitisLactic acidosisMutationPancreatitisFemalebusinessDilatation PathologicExperimental and Clinical Endocrinology & Diabetes
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