Search results for "MITO"

showing 10 items of 2513 documents

Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia

2015

Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objective of this report is to describe the clinical features of patients with these comorbidities in order to shed light on difficult diagnostic and therapeutic approaches in such patients. We reported the different clinical features of children with ID associated with hyperlactacidemia and deficiencies i…

Malemedicine.medical_specialtyPediatricsMitochondrial DiseasesUbiquinoneMitochondrial diseaseautismArticleCatalysislcsh:ChemistryInorganic Chemistrychemistry.chemical_compoundFolic AcidCarnitinemental disordersIntellectual disabilitymedicineHumansHyperlactatemiaCarnitinePhysical and Theoretical Chemistrypossible mitochondrial diseasePsychiatrylcsh:QH301-705.5Molecular BiologySpectroscopyCoenzyme Q10business.industryOrganic ChemistryInfantCognitionVitaminsGeneral Medicinemedicine.diseaseComputer Science ApplicationsMitochondrial respiratory chainlcsh:Biology (General)lcsh:QD1-999chemistryintellectual disabilityChild Development Disorders PervasiveAutism spectrum disorderChild Preschoolmuscular toneAutismFemalebusinessmedicine.drugInternational Journal of Molecular Sciences
researchProduct

Paracrine Activation of Hepatic CB1 Receptors by Stellate Cell-Derived Endocannabinoids Mediates Alcoholic Fatty Liver

2008

SummaryAlcohol-induced fatty liver, a major cause of morbidity, has been attributed to enhanced hepatic lipogenesis and decreased fat clearance of unknown mechanism. Here we report that the steatosis induced in mice by a low-fat, liquid ethanol diet is attenuated by concurrent blockade of cannabinoid CB1 receptors. Global or hepatocyte-specific CB1 knockout mice are resistant to ethanol-induced steatosis and increases in lipogenic gene expression and have increased carnitine palmitoyltransferase 1 activity, which, unlike in controls, is not reduced by ethanol treatment. Ethanol feeding increases the hepatic expression of CB1 receptors and upregulates the endocannabinoid 2-arachidonoylglycer…

Malemedicine.medical_specialtyPhysiologyHUMDISEASEArachidonic AcidsGlyceridesMiceCarnitine palmitoyltransferase 1PiperidinesReceptor Cannabinoid CB1Internal medicineCannabinoid Receptor ModulatorsParacrine CommunicationmedicineAnimalsReceptorDiet Fat-RestrictedMolecular BiologyCells CulturedMice KnockoutCarnitine O-PalmitoyltransferaseEthanolChemistryLipogenesisFatty AcidsFatty liverCell Biologymedicine.diseaseEndocannabinoid systemCoculture TechniquesUp-RegulationMice Inbred C57BLDisease Models AnimalLipoprotein LipaseEndocrinologyLiverLipogenesisHepatocytesHepatic stellate cellPyrazoleslipids (amino acids peptides and proteins)Alcoholic fatty liverFatty Acid SynthasesRimonabantSteatosisSterol Regulatory Element Binding Protein 1Oxidation-ReductionEndocannabinoidsFatty Liver AlcoholicCell Metabolism
researchProduct

Mitochondrial myopathy with lactic acidosis and deficient activity of muscle succinate cytochrome-c-oxidoreductase

1984

A male infant had severe muscular hypotonia from birth. Recurrent vomiting with dehydration and severe metabolic acidosis complicated the course. Elevated lactate (up to 12.3 mmol/l; n less than 2), pyruvate (0.4 mmol/l; n less than 0.05) and alanine levels were found in serum with an abnormal lactate/pyruvate ratio (greater than 30; n less than 15). In urine the concentrations of lactate, pyruvate, alanine and of several intermediates of the citric acid cycle were increased. In muscle, numerous disseminated "ragged red fibres" were found by light microscopy; muscle fibres were found to contain subsarcolemmal aggregates of mitochondria, lipid droplets and glycogen by electromicroscopical me…

Malemedicine.medical_specialtySevere muscular hypotoniaRespiratory chainMitochondria Livermacromolecular substancesMitochondrionBiology03 medical and health scienceschemistry.chemical_compound0302 clinical medicineMuscular DiseasesMitochondrial myopathy030225 pediatricsInternal medicinemedicineHumansGlycogenMusclesInfantMetabolic acidosismedicine.diseaseMitochondriaMitochondria Muscle3. Good healthCitric acid cycleEndocrinologyBiochemistrychemistryLactic acidosisPediatrics Perinatology and Child HealthLactatesSuccinate Cytochrome c OxidoreductaseAcidosisOxidoreductases030217 neurology & neurosurgeryEuropean Journal of Pediatrics
researchProduct

Mitochondrial myopathy--a result of clofibrate/etofibrate treatment? Case report.

1985

A 66-year-old man had developed a myopathy while undergoing several periods of etofibrate and clofibrate therapy over the past 5 years. Discontinuation of etofibrate treatment failed to reverse his muscle illness which, however, did not progress. A muscle biopsy revealed a chronic myopathy marked by abundant, abnormally structured muscle mitochondria. His mitochondrial myopathy may represent a forme fruste of the Kearns-Sayre syndrome or other types of mitochondrial myopathy, clinically made evident by the etofibrate/clofibrate therapy, or a permanent, adverse side effect of clofibrate treatment. If the latter assumption proves to be correct, it will indicate that clofibrate therapy may ind…

Malemedicine.medical_specialtySide effectKearns-Sayre SyndromePathology and Forensic Medicine03 medical and health sciencesCellular and Molecular NeuroscienceClofibric Acid0302 clinical medicineMitochondrial myopathyMuscular DiseasesInternal medicinemedicineHumansClofibrateMyopathy030304 developmental biologyAgedHypolipidemic Agents0303 health sciencesMuscle biopsyClofibratemedicine.diagnostic_testbusiness.industryMusclesForme frustemedicine.disease3. Good healthDiscontinuationMitochondria MuscleMicroscopy ElectronEndocrinologyEtofibrateNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgerymedicine.drugActa neuropathologica
researchProduct

Spermatocyte chromosome analysis of Helicella virgata (Pulmonata: Helicidae): silver-stained and C-banded chromosomes.

1991

Chromosome numbers of the snail Helicella virgata from the fields of Castellammare del Golfo (Sicily) are n = 26 and 2n = 52. Silver-staining analyses of testicular cells suggest that both mitotic and meiotic chromosomes are involved in nucleolus organization. A within-individual variability in NOR-banding pattern is present in each of the 20 specimens analyzed.

Malemedicine.medical_specialtySnailsMitosisChromosomesHelicidaeMeiosisSpermatocytesOxazinesGeneticsmedicineAnimalsSpermatogenesisMolecular BiologyGenetics (clinical)GeneticsbiologyStaining and LabelingCytogeneticsChromosomeKaryotypeNucleolus organizationbiology.organism_classificationMolecular biologyChromosome BandingMeiosisKaryotypingHelicellaNucleolus organizer regionBiotechnologyThe Journal of heredity
researchProduct

Morphological and biochemical changes in striated muscle after experimental tourniquet ischaemia.

1979

Histological and biochemical changes were studied in the striated muscle following total tourniquet ischaemia between one and four h, the reflow time being 30 min and 24 h. Electronmicroscopy was applied to study the fine structure of the muscle after 24 h reflow. In light microscopy ischaemic changes were not seen even when the tourniquet time was extended to four h. When a four-h ischaemia was followed by a 24-h recovery period, the electron microscopy showed a variety of minor mitochondrial changes such as condensed and slightly dilatated mitochondria. The SDH activities did not vary significantly between the experimental and control samples even after a four-h ischaemia followed by 30 m…

Malemedicine.medical_specialtySuccinic dehydrogenaseTime FactorsIschemiaRecovery periodPneumatic tourniquetIschemiaInternal medicinemedicineAnimalscardiovascular diseasesTourniquetbiologyReflow timeL-Lactate DehydrogenaseChemistrySuccinate dehydrogenaseMusclesGeneral MedicineAnatomyTourniquetsmedicine.diseaseMitochondria MuscleSuccinate DehydrogenaseEndocrinologyTourniquet timebiology.proteinFemaleRabbitsResearch in experimental medicine. Zeitschrift fur die gesamte experimentelle Medizin einschliesslich experimenteller Chirurgie
researchProduct

Comparative study of taurine and tauropyrone: GABA receptor binding, mitochondrial processes and behaviour.

2011

Abstract Objectives Taurine, a sulfur-containing amino acid, has high hydrophilicity and is poorly absorbed. Tauropyrone, a taurine-containing 1,4-dihydropyridine derivative, is suggested to have greater activity than taurine owing to improved physicochemical properties that facilitate delivery of the compound to target cells. The aim of this study was to determine whether the 1,4-dihydropyridine moiety in tauropyrone improves the pharmacological efficacy of taurine in vitro and in vivo. Methods The effects of taurine and tauropyrone, as well as of the 1,4-dihydropyridine moiety were compared in in-vitro experiments to determine the binding to GABA receptors and influence on mitochondrial p…

Malemedicine.medical_specialtyTaurineDihydropyridinesGABA receptor bindingTaurinePharmaceutical SciencePharmacologyMotor ActivityBicucullinechemistry.chemical_compoundMiceStructure-Activity RelationshipIn vivoSeizuresInternal medicinemedicineStructure–activity relationshipAnimalsRats WistarReceptorPharmacologychemistry.chemical_classificationMice Inbred ICRDiazepamBehavior AnimalEthanolChemistryGABAA receptorBicucullineReceptors GABA-AAmino acidMitochondriaRatsEndocrinologyMuscle TonusRotarod Performance TestEnergy MetabolismHydrophobic and Hydrophilic Interactionsmedicine.drugProtein BindingThe Journal of pharmacy and pharmacology
researchProduct

Insulin resistance as common molecular denominator linking obesity to Alzheimer’s disease

2015

Alzheimer’s disease (AD) is an aging-related multi-factorial disorder to which metabolic factors contribute at what has canonically been considered a centrally mediated process. Although the exact underlying mechanisms are still unknown, obesity is recognized as a risk factor for AD and the condition of insulin resistance seems to be the link between the two pathologies. Using mice with high fat diet (HFD) obesity we dissected the molecular mechanisms shared by the two disorders. Brains of HFD fed mice showed elevated levels of APP and Aβ 40 /Aβ 42 together with BACE, GSK3β and Tau proteins involved in APP processing and Aβ accumulation. Immunofluorescence, Thioflavin T staining experiments…

Malemedicine.medical_specialtyTime FactorsAdipokineAmyloidogenic ProteinsInflammationBiologyDiet High-Fatmedicine.disease_causeAdipokines Alzheimer’s disease gene expression inflammation insulin resistance mitochondrial dysfunction obesity.Settore BIO/09 - FisiologiaGlycogen Synthase Kinase 3MiceInsulin resistanceAlzheimer DiseaseInternal medicinemedicineAnimalsInsulinObesityReceptorGSK3BGlycogen Synthase Kinase 3 betaSettore BIO/16 - Anatomia UmanaNeurodegenerationBrainmedicine.diseaseReceptor InsulinMice Inbred C57BLDisease Models AnimalOxidative StressInsulin receptorEndocrinologyGene Expression RegulationNeurologyCase-Control Studiesbiology.proteinCytokinesNeurology (clinical)Amyloid Precursor Protein SecretasesInsulin Resistancemedicine.symptomOxidative stressSignal Transduction
researchProduct

Effect of inhibiting carnitine biosynthesis on male rat sexual performance.

2008

l-carnitine has a documented role as a cofactor in cellular energy metabolism and fatty acid beta-oxidation pathways and it has also been considered to function in reproductive biology. We investigated whether decreasing concentrations of L-carnitine using an inhibitor of its biosynthesis, mildronate (3-(2,2,2-trimethylhydrazinium)-propionate), would influence the sexual behavior or sperm quality in male rats. Mildronate treatment induced a significant decrease in carnitine concentration and an increase in gamma-butyrobetaine (GBB) concentration in both plasma and testes extracts. However, the expression of carnitine palmitoyltransferase I in testes and testosterone concentration in plasma …

Malemedicine.medical_specialtyTime FactorsAdministration OralExperimental and Cognitive PsychologyBiologyTesticleBehavioral NeuroscienceSexual Behavior AnimalChymasesAdjuvants ImmunologicTandem Mass SpectrometryInternal medicineCarnitinemedicineAnimalsTestosteroneCarnitineTestosteroneBehavior AnimalDose-Response Relationship DrugEpididymisSpermSpermatozoaRatsBetaineDose–response relationshipEndocrinologymedicine.anatomical_structureCarnitine biosynthesisSperm MotilityCarnitine palmitoyltransferase Imedicine.drugChromatography LiquidMethylhydrazinesPhysiologybehavior
researchProduct

Selected enzyme activities in mouse cardiac muscle during training and terminated training

1984

We studied the effects of running-training, heavy exercise and termination of training on the heart weight, the ratio heart to body weight and the cardiac muscle activities of actomyosin ATPase, citrate synthase, succinate dehydrogenase, cytochrome c oxidase, malate dehydrogenase, adenylate kinase and beta-glucuronidase with adult male NMRI-mice. Stable hypertrophy (6-7%), estimated by the ratio heart or ventricle weight to body weight, was achieved by 28 exercises and it was dependent on the running speed (20 vs. 25 m X min-1). The withdrawal of training for 5-61 days did not permanently decrease the heart weight or the heart to body weight ratio to the level of sedentary controls. The act…

Malemedicine.medical_specialtyTime FactorsHeart diseasePhysiologyATPasePhysical ExertionCardiomegalyMice Inbred StrainsCitrate (si)-SynthaseBiologyMalate dehydrogenaseMitochondria HeartMuscle hypertrophyMicePhysiology (medical)Internal medicinemedicineAnimalsCitrate synthaseGlucuronidaseAdenosine TriphosphatasesCardiac muscleActomyosinmedicine.diseaseMyocardial ContractionMitochondria MuscleEndocrinologymedicine.anatomical_structureVentriclebiology.proteinHeart enlargementCardiology and Cardiovascular MedicineOxidation-ReductionBasic Research in Cardiology
researchProduct