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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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“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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Emerging Roles of RNA 3′-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders

2020

A crucial feature of gene expression involves RNA processing to produce 3′ ends through a process termed 3′ end cleavage and polyadenylation (CPA). This ensures the nascent RNA molecule can exit the nucleus and be translated to ultimately give rise to a protein which can execute a function. Further, alternative polyadenylation (APA) can produce distinct transcript isoforms, profoundly expanding the complexity of the transcriptome. CPA is carried out by multi-component protein complexes interacting with multiple RNA motifs and is tightly coupled to transcription, other steps of RNA processing, and even epigenetic modifications. CPA and APA contribute to the maintenance of a multitude of dive…

0301 basic medicinePolyadenylationcardiovascular disorderslcsh:QR1-502ReviewComputational biologyBiologyPolyadenylationCleavage (embryo)Biochemistrylcsh:MicrobiologyTranscriptome03 medical and health sciences0302 clinical medicineTranscription (biology)NeoplasmsGene expressionHumansDirectionalitycancerheterocyclic compoundsEpigeneticsMolecular BiologyRNA Cleavagediseasetherapyalternative polyadenylationRNAfood and beveragesNeurodegenerative Diseases3′ end processing030104 developmental biologyCardiovascular Diseases030220 oncology & carcinogenesisneurodegenerative disorderscardiovascular systemRNAbiomarkercleavage and polyadenylationBiomolecules
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Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases.

2021

Background: Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. Methods: A bibliographic review was performed on the MEDLINE and Web of S…

0301 basic medicinePoor prognosisLegal positionMitochondrial DNAFarmacologiaWeb of scienceMEDLINEReviewmitochondrial DNABioinformaticsDNA MitochondrialCatalysisMitocondrisInorganic Chemistrylcsh:Chemistry03 medical and health sciencesmitochondrial donation0302 clinical medicineMedicineHumansPhysical and Theoretical ChemistryMolecular Biologylcsh:QH301-705.5Spectroscopymitochondrial diseases030219 obstetrics & reproductive medicinebusiness.industryOrganic ChemistryDonor oocyteGeneral MedicineDNAGenetic TherapyComputer Science ApplicationsNuclear DNAMitochondriaClinical trial030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Oocytesmitochondrial replacementthree-parent babybusinessInternational journal of molecular sciences
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Food Processing at a Crossroad

2019

Recently, processed foods received negative images among consumers and experts regarding food-health imbalance. This stresses the importance of the food processing—nutrition interface and its relevance within the diet-health debates. In this review, we approach the related questions in a 3-fold way. Pointing out the distinguished role food processing has played in the development of the human condition and during its 1.7 million year old history, we show the function of food processing for the general design principles of food products. Secondly, a detailed analysis of consumer related design principles and processing reveals questions remaining from the historical transformation from basic…

0301 basic medicineProcess (engineering)Computer scienceEmerging technologiesEndocrinology Diabetes and Metabolismmedia_common.quotation_subjectlcsh:TX341-641030209 endocrinology & metabolismFood technologyReviewnutrient profiling03 medical and health sciences0302 clinical medicinefood processingultra-processed foodsFunction (engineering)NutritionGrand Challengesmedia_commonfood process-structure-function relationship030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industrydigestive oral and skin physiologyData sciencePAN principlesemerging technologiesfood system changesParadigm shiftFood processingFood systemsbusinesslcsh:Nutrition. Foods and food supplyFood ScienceFrontiers in Nutrition
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Autophagy as a defense strategy against stress: focus on Paracentrotus lividus sea urchin embryos exposed to cadmium

2015

Autophagy is used by organisms as a defense strategy to face environmental stress. This mechanism has been described as one of the most important intracellular pathways responsible for the degradation and recycling of proteins and organelles. It can act as a cell survival mechanism if the cellular damage is not too extensive or as a cell death mechanism if the damage/stress is irreversible; in the latter case, it can operate as an independent pathway or together with the apoptotic one. In this review, we discuss the autophagic process activated in several aquatic organisms exposed to different types of environmental stressors, focusing on the sea urchin embryo, a suitable system recently in…

0301 basic medicineProgrammed cell deathAquatic Organismsfood.ingredientEmbryo NonmammalianStreMini ReviewApoptosis; Autophagy; Cadmium; Defense strategies; Sea urchin embryos; Stress; Biochemistry; Cell BiologyApoptosisBiochemistryParacentrotus lividusToxicology03 medical and health scienceschemistry.chemical_compoundfoodStress PhysiologicalDefense strategieParacentrotusAutophagyAnimalsSettore BIO/06 - Anatomia Comparata E CitologiaSea urchin embryobiologyMechanism (biology)AutophagyApoptosiCell BiologyEnvironmental exposureEnvironmental Exposurebiology.organism_classificationAdaptation PhysiologicalCell biology030104 developmental biologychemistryParacentrotusIntracellularToxicantCadmium
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Oxytosis/Ferroptosis—(Re-) Emerging Roles for Oxidative Stress-Dependent Non-apoptotic Cell Death in Diseases of the Central Nervous System

2018

Although nerve cell death is the hallmark of many neurological diseases, the processes underlying this death are still poorly defined. However, there is a general consensus that neuronal cell death predominantly proceeds by regulated processes. Almost 30 years ago, a cell death pathway eventually named oxytosis was described in neuronal cells that involved glutathione depletion, reactive oxygen species production, lipoxygenase activation, and calcium influx. More recently, a cell death pathway that involved many of the same steps was described in tumor cells and termed ferroptosis due to a dependence on iron. Since then there has been a great deal of discussion in the literature about wheth…

0301 basic medicineProgrammed cell deathCell typebrain diseasesCentral nervous systemReviewoxytosisBiologymedicine.disease_causelcsh:RC321-57103 medical and health sciencesironmedicineoxidative stresslcsh:Neurosciences. Biological psychiatry. Neuropsychiatryprogrammed cell deathchemistry.chemical_classificationReactive oxygen speciesGeneral NeuroscienceFerroptosisBrain Diseases ; Ferroptosis ; Iron ; Oxidative Stress ; Oxytosis ; Programmed Cell Deathferroptosis030104 developmental biologymedicine.anatomical_structurechemistryApoptotic cell deathNeuroscienceCalcium influxOxidative stressNeuroscienceFrontiers in Neuroscience
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Apoptosis of Hepatocytes: Relevance for HIV-Infected Patients under Treatment.

2021

Due to medical advances over the past few decades, human immunodeficiency virus (HIV) infection, once a devastatingly mortal pandemic, has become a manageable chronic condition. However, available antiretroviral treatments (cART) cannot fully restore immune health and, consequently, a number of inflammation-associated and/or immunodeficiency complications have manifested themselves in treated HIV-infected patients. Among these chronic, non-AIDS (acquired immune deficiency syndrome)-related conditions, liver disease is one of the deadliest, proving to be fatal for 15–17% of these individuals. Aside from the presence of liver-related comorbidities, including metabolic disturbances and co-infe…

0301 basic medicineProgrammed cell deathChronic conditionantiretroviral drugs; apoptosis; hepatic cell death; HIV; liver; toxicityInflammationApoptosisHIV InfectionsReviewliverModels Biological03 medical and health sciencesLiver disease0302 clinical medicineImmune systemAntiretroviral Therapy Highly ActivemedicineHumans030212 general & internal medicinelcsh:QH301-705.5antiretroviral drugsImmunodeficiencybusiness.industryapoptosisHIVtoxicityGeneral Medicinemedicine.diseasehepatic cell death030104 developmental biologylcsh:Biology (General)LiverApoptosisImmunologyUnfolded protein responseHepatocytesmedicine.symptombusinessCells
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Taking up the cudgels for the traditional reactive oxygen and nitrogen species detection assays and their use in the cardiovascular system

2017

Reactive oxygen and nitrogen species (RONS such as H2O2, nitric oxide) confer redox regulation of essential cellular functions (e.g. differentiation, proliferation, migration, apoptosis), initiate and catalyze adaptive stress responses. In contrast, excessive formation of RONS caused by impaired break-down by cellular antioxidant systems and/or insufficient repair of the resulting oxidative damage of biomolecules may lead to appreciable impairment of cellular function and in the worst case to cell death, organ dysfunction and severe disease phenotypes of the entire organism. Therefore, the knowledge of the severity of oxidative stress and tissue specific localization is of great biological …

0301 basic medicineProgrammed cell deathRedox signalingClinical BiochemistrySevere diseaseReview ArticleBiologymedicine.disease_causeCardiovascular SystemBiochemistry03 medical and health sciencesPhysiology (medical)medicineDihydroethidium oxidative fluorescence microtopographyAnimalsHumanslcsh:QH301-705.5Organismchemistry.chemical_classificationlcsh:R5-920Reactive oxygen speciesFluorescence and chemiluminescence-based assaysOrganic ChemistrySpecies detectionNADPH OxidasesPhenotypeReactive Nitrogen SpeciesOxidative Stress030104 developmental biologylcsh:Biology (General)chemistryBiochemistryL-012-enhanced chemiluminescenceLuminescent MeasurementsLucigenin-enhanced chemiluminescencelcsh:Medicine (General)Reactive Oxygen SpeciesNeuroscienceOxidation-ReductionFunction (biology)Oxidative stressFree Radical Biology and Medicine
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