Search results for "mitochondrial"

showing 10 items of 919 documents

Intrahepatic IgG/IgM plasma cells ratio helps in classifying autoimmune liver diseases.

2010

Abstract Background/Aim Plasma cells infiltrate in the liver is a prototype lesion of autoimmune liver diseases. The possible role of plasma cells isotyping (IgM and IgG) in the liver in the diagnostic definition of autoimmune liver disease, and particularly in variant syndromes such as autoimmune cholangitis and the primary biliary cirrhosis/autoimmune hepatitis overlap syndrome, is less defined. Methods We analysed the clinical, serological and histological features of 83 patients with autoimmune liver disease (40 primary biliary cirrhosis, 20 autoimmune hepatitis, 13 primary sclerosing cholangitis, 4 autoimmune cholangitis and 6 overlap syndrome) compared to 34 patients with chronic hepa…

AdultMalePathologymedicine.medical_specialtyLiver kidney microsomal type 1 antibodyCholangitisBiopsyCholangitis SclerosingPlasma CellsAutoimmune hepatitisAutoimmune cholangitis Autoimmune hepatitis IgG plasma cells IgM plasma cells Immunostaining Liver biopsy Overlap syndromes Portal infiltrate Primary biliary cirrhosisSettore MED/08 - Anatomia PatologicaAutoimmune DiseasesPrimary sclerosing cholangitisSex FactorsPrimary biliary cirrhosismedicineHumansAgedAutoantibodiesHepatitisSettore MED/12 - GastroenterologiaHepatologymedicine.diagnostic_testLiver Cirrhosis Biliarybusiness.industryGastroenterologyAlanine TransaminaseOverlap syndromegamma-GlutamyltransferaseMiddle AgedAlkaline Phosphatasemedicine.diseaseHepatitis CHepatitis AutoimmuneImmunoglobulin MLiverImmunoglobulin GLiver biopsyFemaleBile DuctsbusinessAnti-mitochondrial antibody
researchProduct

The Amount of Mitochondrial DNA in Blood Reflects the Course of a Depressive Episode

2016

AdultMalePsychiatric Status Rating ScalesGeneticsDepressive DisorderMitochondrial DNAbusiness.industryMiddle AgedBioinformaticsDNA Mitochondrial030227 psychiatryYoung Adult03 medical and health sciences0302 clinical medicineDisease ProgressionHumansMedicineFemaleLongitudinal Studiesbusiness030217 neurology & neurosurgeryBiological PsychiatryBiological Psychiatry
researchProduct

Low testosterone levels are related to oxidative stress, mitochondrial dysfunction and altered subclinical atherosclerotic markers in type 2 diabetic…

2017

Abstract Introduction Low testosterone levels in men are associated with type 2 diabetes and cardiovascular risk. However, the role of testosterone in mitochondrial function and leukocyte-endothelium interactions is unknown. Our aim was to evaluate the relationship between testosterone levels, metabolic parameters, oxidative stress, mitochondrial function, inflammation and leukocyte-endothelium interactions in type 2 diabetic patients. Materials and methods The study was performed in 280 male type 2 diabetic patients and 50 control subjects. Anthropometric and metabolic parameters, testosterone levels, reactive oxygen species (ROS) production, mitochondrial membrane potential, TNFα, adhesio…

AdultMaleRiskMitochondrial ROSmedicine.medical_specialtyApolipoprotein BVascular Cell Adhesion Molecule-1030209 endocrinology & metabolismInflammationType 2 diabetes030204 cardiovascular system & hematologyMitochondrionmedicine.disease_causeBiochemistry03 medical and health sciences0302 clinical medicinePhysiology (medical)Internal medicineLeukocytesmedicineHumansTestosteroneMembrane Potential Mitochondrialchemistry.chemical_classificationReactive oxygen speciesbiologyTestosterone (patch)Middle AgedAtherosclerosismedicine.diseaseMitochondriaOxidative StressEndocrinologyDiabetes Mellitus Type 2chemistrybiology.proteinCytokinesInflammation Mediatorsmedicine.symptomReactive Oxygen SpeciesBiomarkersOxidative stressFree Radical Biology and Medicine
researchProduct

Olive oils high in phenolic compounds modulate oxidative/antioxidative status in men

2004

The aim of the present study was to evaluate whether olive oils high in phenolic compounds influence the oxidative/antioxidative status in humans. Healthy men (n = 12) participated in a double-blind, randomized, crossover study in which 3 olive oils with low (LPC), moderate (MPC), and high (HPC) phenolic content were given as raw doses (25 mL/d) for 4 consecutive days preceded by 10-d washout periods. Volunteers followed a strict very low-antioxidant diet the 3 d before and during the intervention periods. Short-term consumption of olive oils decreased plasma oxidized LDL (oxLDL), 8-oxo-dG in mitochondrial DNA and urine, malondialdehyde in urine (P < 0.05 for linear trend), and increased HD…

AdultMaleTime FactorsMedicine (miscellaneous)Urinemedicine.disease_causeDNA MitochondrialAntioxidantschemistry.chemical_compoundDouble-Blind MethodPhenolsMalondialdehydemedicineHumansPlant OilsPhenolsFood scienceOlive OilGlutathione PeroxidaseNutrition and DieteticsCross-Over StudiesDose-Response Relationship DrugCholesterolCholesterol HDLDeoxyguanosineMalondialdehydePostprandial PeriodDietLipoproteins LDLDose–response relationshipVegetable oilPostprandialchemistryBiochemistry8-Hydroxy-2'-DeoxyguanosineOxidation-ReductionOxidative stress
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct