Search results for "Cause"

showing 10 items of 6525 documents

Metal homeostasis regulators suppress FRDA phenotypes in a drosophila model of the disease

2016

Friedreich's ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tissues including the brain, and frataxin has been proposed to play a key role in iron homeostasis. We found that the levels of zinc, copper, manganese and aluminum were also increased in a Drosophila model of FRDA, and that copper and zinc chelation improve their impaired motor performance. By means of a candidate genetic screen, we identified that genes implicated in iron, zinc and copper transport and metal detoxification can restore frataxin def…

0301 basic medicinePhysiologyGene Expressionlcsh:MedicineMitochondrionmedicine.disease_causeAntioxidantsIron-Binding ProteinsMedicine and Health SciencesHomeostasislcsh:ScienceGeneticsMultidisciplinarybiologyDrosophila MelanogasterIron-binding proteinsAnimal ModelsPhenotypeMitochondria3. Good healthInsectsDNA-Binding ProteinsChemistryZincPhenotypesPhysical SciencesDrosophilaAnatomymedicine.symptomDrosophila melanogasterResearch ArticleChemical ElementsAtaxiaArthropodaIronResearch and Analysis Methods03 medical and health sciencesModel OrganismsOcular SystemmedicineGeneticsAnimalsHumansGenetikManganeselcsh:ROrganismsBiology and Life SciencesCell Biologybiology.organism_classificationInvertebratesOxidative StressDisease Models Animal030104 developmental biologyFriedreich AtaxiaFrataxinbiology.proteinEyeslcsh:QPhysiological ProcessesCarrier ProteinsHeadCopperOxidative stressAluminumTranscription FactorsGenetic screen
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Oxidative Stress: A Unifying Mechanism for Cell Damage Induced by Noise, (Water-Pipe) Smoking, and Emotional Stress-Therapeutic Strategies Targeting …

2018

Modern technologies have eased our lives but these conveniences can impact our lifestyles in destructive ways. Noise pollution, mental stresses, and smoking (as a stress-relieving solution) are some environmental hazards that affect our well-being and healthcare budgets. Scrutinizing their pathophysiology could lead to solutions to reduce their harmful effects. Recent Advances: Oxidative stress plays an important role in initiating local and systemic inflammation after noise pollution, mental stress, and smoking. Lipid peroxidation and release of lysolipid by-products, disturbance in activation and function of nuclear factor erythroid 2-related factor 2 (Nrf2), induction of stress hormones …

0301 basic medicinePhysiologyNF-E2-Related Factor 2Clinical BiochemistrySystemic inflammationmedicine.disease_causeBiochemistryAntioxidantsLipid peroxidation03 medical and health scienceschemistry.chemical_compound0302 clinical medicineWater Pipe SmokingMedicineHumansMolecular BiologyCell damageGeneral Environmental ScienceInflammationbusiness.industryNoise pollutionMechanism (biology)SmokingCell Biologymedicine.diseaseOxidative Stress030104 developmental biologychemistryGeneral Earth and Planetary SciencesLipid Peroxidationmedicine.symptombusinessNoiseReactive Oxygen SpeciesNeuroscienceOxidation-Reduction030217 neurology & neurosurgeryIntracellularOxidative stressStress PsychologicalSignal TransductionAntioxidantsredox signaling
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Does Pasteurized Donor Human Milk Efficiently Protect Preterm Infants Against Oxidative Stress?

2019

International audience; Pasteurized donor human milk (DHM) is the preferred alternative for infant nutrition when own mother's milk (OMM) is unavailable. Whether DHM is an efficient means for protecting preterm infants from oxidative stress remains unknown. We quantified a panel of oxidative stress biomarkers in urine samples from preterm infants (≤32 weeks of gestation and a birth weight ≤1500 g) receiving ≥80% of feeding volume as either DHM or OMM. The noninvasive in vivo assessment of oxidative stress showed no statistically significant difference between both groups at the time when full enteral nutrition (150 mL/kg body weight) was achieved and until hospital discharge. In addition, t…

0301 basic medicinePhysiology[SDV]Life Sciences [q-bio]Clinical BiochemistryPasteurizationmedicine.disease_causeBiochemistrylaw.inventionpreterm infant03 medical and health sciencesEnteral Nutritionfluids and secretionslawHumansMedicineoxidative stressLongitudinal StudiesProspective StudiesFood scienceMolecular BiologyGeneral Environmental Science2. Zero hungerMilk Human030102 biochemistry & molecular biologyfull enteral feedingbusiness.industryInfant Newbornfood and beveragesbiomarkersInfant nutritionCell BiologyInfant Low Birth Weight3. Good health030104 developmental biologydonor human milk (DHM)own mother's milk (OMM)PasteurizationGeneral Earth and Planetary SciencesFemalebusiness[SDV.AEN]Life Sciences [q-bio]/Food and NutritionInfant PrematureOxidative stress
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MicroRNAs and Oxidative Stress: An Intriguing Crosstalk to Be Exploited in the Management of Type 2 Diabetes

2021

Type 2 diabetes is a chronic disease widespread throughout the world, with significant human, social, and economic costs. Its multifactorial etiology leads to persistent hyperglycemia, impaired carbohydrate and fat metabolism, chronic inflammation, and defects in insulin secretion or insulin action, or both. Emerging evidence reveals that oxidative stress has a critical role in the development of type 2 diabetes. Overproduction of reactive oxygen species can promote an imbalance between the production and neutralization of antioxidant defence systems, thus favoring lipid accumulation, cellular stress, and the activation of cytosolic signaling pathways, and inducing β-cell dysfunction, insul…

0301 basic medicinePhysiologymedicine.medical_treatmentClinical BiochemistryInflammationRM1-950Type 2 diabetesReviewBiologymedicine.disease_causeBiochemistry03 medical and health sciences0302 clinical medicineInsulin resistancemicroRNAmedicineoxidative stressredox signalingMolecular BiologymicroRNAInsulinCell Biologymedicine.diseaseCell biologyCrosstalk (biology)030104 developmental biology030220 oncology & carcinogenesisTherapeutics. Pharmacologytype 2 diabetesmedicine.symptomSignal transductionOxidative stressAntioxidants
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Mitoprotective Clinical Strategies in Type 2 Diabetes and Fanconi Anemia Patients: Suggestions for Clinical Management of Mitochondrial Dysfunction

2020

Oxidative stress (OS) and mitochondrial dysfunction (MDF) occur in a number of disorders, and several clinical studies have attempted to counteract OS and MDF by providing adjuvant treatments against disease progression. The present review is aimed at focusing on two apparently distant diseases, namely type 2 diabetes (T2D) and a rare genetic disease, Fanconi anemia (FA). The pathogenetic links between T2D and FA include the high T2D prevalence among FA patients and the recognized evidence for OS and MDF in both disorders. This latter phenotypic/pathogenetic feature—namely MDF—may be regarded as a mechanistic ground both accounting for the clinical outcomes in both diseases, and…

0301 basic medicinePhysiologymedicine.medical_treatmentClinical Biochemistrymitochondrial nutrientsDiseaseType 2 diabetesReviewBioinformaticsmedicine.disease_causeBiochemistry03 medical and health scienceschemistry.chemical_compound0302 clinical medicineIn vivoFanconi anemiamitochondrial dysfunctionmedicineoxidative stressMolecular Biologyfanconi anemiaCoenzyme Q10business.industrylcsh:RM1-950Mitochondrial nutrientCell Biologymedicine.diseasePhenotype030104 developmental biologylcsh:Therapeutics. Pharmacologychemistry030220 oncology & carcinogenesisOxidative stretype 2 diabetesbusinessAdjuvantOxidative stressAntioxidants
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Stem Cells in Pituitary Tumors: Experimental Evidence Supporting Their Existence and Their Role in Tumor Clinical Behavior

2019

Although generally benign, pituitary tumors frequently show local invasiveness and resistance to pharmacological therapy. After the demonstration of the existence of pituitary gland stem cells, over the past decade, the presence of a stem cell subpopulation in pituitary tumors has been investigated, analogous to the cancer stem cell model developed for malignant tumors. This review recapitulates the experimental evidence supporting the existence of a population of stem-like cells in pituitary tumors, focusing on their potential role in tumor initiation, progression, recurrence and resistance to pharmacological therapy.

0301 basic medicinePituitary glandrecurrencePharmacological therapyMini ReviewEndocrinology Diabetes and MetabolisminvasivenessPopulation030209 endocrinology & metabolismTumor initiationmedicine.disease_causelcsh:Diseases of the endocrine glands. Clinical endocrinologyresistance03 medical and health sciences0302 clinical medicineEndocrinologyCancer stem cellpituitary tumorsstem cellsmedicineeducationinvasiveness; pituitary tumors; recurrence; resistance; stem cells; tumourigenesiseducation.field_of_studylcsh:RC648-665business.industryPituitary tumorsmedicine.disease030104 developmental biologymedicine.anatomical_structuretumourigenesisCancer researchStem cellCarcinogenesisbusinessFrontiers in Endocrinology
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Effects of air pollution particles (ultrafine and fine particulate matter) on mitochondrial function and oxidative stress – Implications for cardiova…

2020

Environmental pollution is a major cause of global mortality and burden of disease. All chemical pollution forms together may be responsible for up to 12 million annual excess deaths as estimated by the Lancet Commission on pollution and health as well as the World Health Organization. Ambient air pollution by particulate matter (PM) and ozone was found to be associated with an all-cause mortality rate of up to 9 million in the year 2015, with the majority being of cerebro- and cardiovascular nature (e.g. stroke and ischemic heart disease). Recent evidence suggests that exposure to airborne particles and gases contributes to and accelerates neurodegenerative diseases. Especially, airborne t…

0301 basic medicinePollutionmedia_common.quotation_subjectBiophysicsAir pollutionEnvironmental pollutionDiseasemedicine.disease_causeBiochemistry03 medical and health sciencesEnvironmental healthMedicineAnimalsHumansEnvironmental risk factorsNeurodegenerationMolecular Biologymedia_commonMitochondrial damage and dysfunctionAir Pollutants030102 biochemistry & molecular biologybusiness.industryMortality rateNeurodegenerationNeurodegenerative DiseasesParticulatesmedicine.diseaseCardiovascular diseaseMitochondriaOxidative Stress030104 developmental biologyCardiovascular DiseasesAmbient air pollution; Cardiovascular disease; Environmental risk factors; Mitochondrial damage and dysfunction; Neurodegeneration; Particulate matter; Air Pollutants; Animals; Cardiovascular Diseases; Humans; Mitochondria; Neurodegenerative Diseases; Oxidative Stress; Particulate MatterParticulate MatterAmbient air pollutionbusinessOxidative stress
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“Back to a false normality”: new intriguing mechanisms of resistance to PARP inhibitors

2017

Several evidences have shown that BRCA mutations increased tumor-cells sensitivity to PARP inhibitors by synthetic lethality leading to an accelerated development of several compounds targeting the PARP enzymes system as anticancer agents for clinical setting. Most of such compounds have been investigated in ovarian and breast cancer, showing promising efficacy in BRCA-mutated patients. Recently clinical studies of PARP-inhibitors have been extended across different tumor types harboring BRCA-mutations, including also "BRCA-like" sporadic tumors with homologous recombination deficiency (HRD). This review summarizes the biological background underlying PARP-inhibition, reporting the results …

0301 basic medicinePoly ADP ribose polymerasemedicine.medical_treatmentReviewSynthetic lethalityPoly(ADP-ribose) Polymerase Inhibitorsmedicine.disease_causePoly (ADP-Ribose) Polymerase Inhibitorresistance03 medical and health sciences0302 clinical medicineBreast cancerCell Line TumorBRCA1-2AnimalsHumansMedicinePARP inhibitorsBRCA2 ProteinGeneticsMutationChemotherapyBRCA1 Proteinbusiness.industryBRCA1-2; PARP inhibitors; Resistance; Oncologymedicine.diseaseBRCA2 ProteinClinical trialPARP inhibitor030104 developmental biologyOncologyDrug Resistance Neoplasm030220 oncology & carcinogenesisMutationCancer researchbusinessOncotarget
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Polyphenols: Potential Use in the Prevention and Treatment of Cardiovascular Diseases

2018

Background: Polyphenols are bioactive compounds that can be found mostly in foods like fruits, cereals, vegetables, dry legumes, chocolate and beverages such as coffee, tea and wine. They are extensively used in the prevention and treatment of cardiovascular disease (CVD) providing protection against many chronic illnesses. Their effects on human health depend on the amount consumed and on their bioavailability. Many studies have demonstrated that polyphenols have also good effects on the vascular system by lowering blood pressure, improving endothelial function, increasing antioxidant defences, inhibiting platelet aggregation and low-density lipoprotein oxidation, and reducing inflammator…

0301 basic medicinePolyphenolcardiovascular risklignanAntioxidantmedicine.medical_treatmentInflammationPharmacologystilbenesmedicine.disease_cause03 medical and health sciencespreventionDiabetes mellitusDrug DiscoveryHumansMedicineAnimalsflavonoidLipoprotein oxidationEndothelial dysfunctionpolyphenolsPharmacologytherapytherapy.030109 nutrition & dieteticsphenolic acidbusiness.industrylignansfood and beveragesmedicine.diseasestilbeneCardiovascular DiseasesPolyphenolflavonoidspolyphenols; flavonoids; lignans; stilbenes; phenolic acids; prevention; therapy; cardiovascular riskmedicine.symptombusinessphenolic acidsOxidative stressLipoprotein
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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

2017

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2…

0301 basic medicineProbandMaleCDKL5Drug Resistancemedicine.disease_causeBioinformaticsEpilepsyAnticonvulsantSTXBP1Age of OnsetChildGenetics (clinical)AlleleMutationepilepsy; next-generation sequencing; gene panel; mutationPhenotypeMagnetic Resonance ImagingSettore MED/39 - Neuropsichiatria Infantile3. Good healthPhenotypeChild PreschoolAnticonvulsantsFemaleSequence AnalysisHumanAdolescentGenotypeGenetic Association StudieBiologyMECP203 medical and health sciencesGeneticgene panelGeneticsmedicineHumansGenetic Predisposition to DiseasePreschoolGeneAllelesGenetic Association StudiesGene Expression ProfilingInfant NewbornComputational BiologyInfantMolecular Sequence AnnotationDNASequence Analysis DNANewbornmedicine.disease030104 developmental biologyepilepsynext-generation sequencingmutation
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