Search results for "Neurodegenerative Disease"

showing 10 items of 169 documents

Mitochondrial and redox dysfunction in post-menopause as risk factor of neurodegenerative disease: a pilot study testing the role of a validated Japa…

2020

During the menopause women may experience increased oxidative stress and decreased antioxidant capacity and, together with the decline of neurosteroids, this represents a risk factor for Alzheimer's disease. The aim of the present study was to test a functional food (FPP-ORI, Osato Research Institute, Gifu, Japan) on redox and mitochondrial efficiency in post-menopausal women. The study population consisting of 69 untreated post-menopausal women were given supplements as follows: Group A was given a multivitamin (MV) 1c 2 times a day, and group B was given FPP 4.5 g 2 times a day. Group C consisted of 23 fertile premenopausal women as the control group. The tests carried out on entry, and a…

MDAmenopausePilot ProjectsAntioxidantsElectron Transport Complex IVFPP-ORIJapanFunctional FoodRisk FactorsMalondialdehydeBDNF; COX activity; FPP-ORI; GPx; MDA; SOD1; menopause; mitochondria; redox dysfunctionHumansGPxBrain-Derived Neurotrophic FactorNeurodegenerative DiseasesSOD1PostmenopauseCOX activitymitochondriaOxidative StressBDNFLeukocytes Mononuclearredox dysfunctioncFemaleCOX activity.Oxidation-Reductionredox dysfunction
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Oxidation Enhances Human Serum Albumin Thermal Stability and Changes the Routes of Amyloid Fibril Formation

2014

Oxidative damages are linked to several aging-related diseases and are among the chemical pathways determining protein degradation. Specifically, interplay of oxidative stress and protein aggregation is recognized to have a link to the loss of cellular function in pathologies like Alzheimer's and Parkinson's diseases. Interaction between protein and reactive oxygen species may indeed induce small changes in protein structure and lead to the inhibition/modification of protein aggregation process, potentially determining the formation of species with different inherent toxicity. Understanding the temperate relationship between these events can be of utmost importance in unraveling the molecul…

Macromolecular AssembliesProtein Foldinglcsh:MedicineProtein aggregationBiochemistryPhysical Chemistry01 natural sciencesProtein Structure SecondaryProtein structurePathologylcsh:Sciencechemistry.chemical_classification0303 health sciencesMultidisciplinarybiologyProtein StabilityChemistryPhysicsNeurodegenerationTemperatureNeurodegenerative DiseasesHuman serum albuminChemistryNeurologyBiochemistryMedicineOxidation-ReductionMolecular PathologyResearch Articlemedicine.drugAmyloidBiophysicsSerum albuminProtein degradation010402 general chemistry03 medical and health sciencesDiagnostic MedicinemedicineHumansProtein InteractionsBiologySerum Albumin030304 developmental biologyAmyloid Fluorescence Oxidation Protein aggregation Spectoscopy Light Scattering Serum AlbuminReactive oxygen specieslcsh:RProteinsHydrogen Peroxidemedicine.diseaseProtein tertiary structure0104 chemical sciencesKineticsbiology.proteinlcsh:QProtein MultimerizationGeneral Pathology
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Early impairment of epigenetic pattern in neurodegeneration: Additional mechanisms behind pyrethroid toxicity

2019

Abstract Permethrin is a synthetic pyrethroid extensively used as anti-woodworm agent and for indoor and outdoor pest control. The main route of human exposure is through fruit, vegetable and milk intake. Low dosage exposure to permethrin during neonatal brain development (from postnatal day 6 to postnatal day 21) leads to dopamine decrease in rat striatum nucleus, oxidative stress and behavioural changes linked to the development of Parkinson's like neurodegeneration later in life. The aim of this study was to evaluate the expression of genes involved in the dopaminergic pathway and epigenetic regulatory mechanisms in adolescent rats treated with permethrin during neonatal brain developmen…

Male0301 basic medicineAgingDopamineStriatumPharmacologyBiologyBiochemistryEpigenesis GeneticMECP203 medical and health sciences0302 clinical medicineEndocrinologyDopamineNuclear Receptor Subfamily 4 Group A Member 2parasitic diseasesGeneticsmedicineAnimalsEpigeneticsRats WistarPromoter Regions GeneticDNA Modification MethylasesMolecular BiologyPermethrinOrphan receptorDopaminergicNeurodegenerationNeurodegenerative DiseasesCell BiologyDNA Methylationmedicine.diseaseCorpus StriatumRatsMolecular Docking Simulation030104 developmental biologyAnimals Newbornalpha-SynucleinProtein Multimerization030217 neurology & neurosurgeryPermethrinmedicine.drugExperimental Gerontology
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Garcinoic acid prevents β-amyloid (Aβ) deposition in the mouse brain

2020

Garcinoic acid (GA or δ-T3-13'COOH), is a natural vitamin E metabolite that has preliminarily been identified as a modulator of nuclear receptors involved in β-amyloid (Aβ) metabolism and progression of Alzheimer's disease (AD). In this study, we investigated GA's effects on Aβ oligomer formation and deposition. Specifically, we compared them with those of other vitamin E analogs and the soy isoflavone genistein, a natural agonist of peroxisome proliferator–activated receptor γ (PPARγ) that has therapeutic potential for managing AD. GA significantly reduced Aβ aggregation and accumulation in mouse cortical astrocytes. Similarly to genistein, GA up-regulated PPARγ expression and apolipoprote…

Male0301 basic medicineApolipoprotein EBiologiamedicine.medical_treatmentMetaboliteGenisteinFisiologiavitamin EPharmacologyProtein Aggregation PathologicalBiochemistry)protein aggregationgenisteinMiceProtein Aggregates03 medical and health scienceschemistry.chemical_compoundperoxisome proliferator-activated receptor gamma (PPARγ)neurodegenerative diseaseNeurobiologygarcinoic acidmedicineAnimalsBenzopyranstocotrienolReceptorMolecular BiologyPregnane X receptorAmyloid beta-Peptidespregnane X receptor (PXR)peroxisome proliferator-activated receptor (PPAR)030102 biochemistry & molecular biologyVitamin EBrainCell BiologyAlzheimer's diseasetocopherol030104 developmental biologyNuclear receptorchemistryperoxisome proliferator-activated receptor gamma (PPAR gamma)amyloid-beta (AB)apolipoprotein E (ApoETocotrienolAlzheimer diseaseapolipoprotein E (ApoE)
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

2017

International audience; Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons. We also found that CIC …

Male0301 basic medicineAutism Spectrum DisorderAtaxin 1neuronsautismNerve Tissue Proteinsattention-deficit/hyperactivity disorderAmygdalaArticleMice03 medical and health sciencesTranscriptional repressor complexataxin-1Cerebellum[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyGeneticsmedicineAnimalsHumansAttention deficit hyperactivity disorderInterpersonal Relationssca1 neuropathologybiologysocial-behaviorNeurodegenerationcag repeatNuclear ProteinsNeurodegenerative Diseasesmedicine.diseasePhenotypeRepressor ProteinsPhenotype030104 developmental biologymedicine.anatomical_structureAutism spectrum disorderintellectual disabilitybiology.proteinAutismFemaleNeurosciencetime pcr datarepressor capicua[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcifica…

2020

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with latent transforming growth factor beta-1 (TGF- β1) and anchors it on the cell surface; this anchoring is required for activation of TGF-β1 in macrophages and microglia. We report six individuals from four families with bi-allelic variants in NRROS. All affected individuals had neurodegenerative disease with refractory epilepsy, developmental regression, and reduced white matter volume with delayed myelination. The clinical course in affected individuals began with normal development or mild developmental delay, and the onset of seizures occurred within the first ye…

Male0301 basic medicineInflammationBiologyintracranial calcificationneuroinflammationTransforming Growth Factor beta103 medical and health sciences0302 clinical medicineReportTGF-β1NRROSGeneticsmedicineHumansAllelesGenetics (clinical)NeuroinflammationBrain DiseasesMicrogliaMacrophagesNeurodegenerationneurodegenerationCalcinosisGenetic VariationInfantNeurodegenerative Diseasesmedicine.diseaseNFKB1Latent TGF-beta binding proteinHEK293 Cells030104 developmental biologymedicine.anatomical_structureLatent TGF-beta Binding ProteinsImmunologyKnockout mouseFemaleMicrogliamutationmedicine.symptomDevelopmental regression030217 neurology & neurosurgeryThe American Journal of Human Genetics
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Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

2017

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia disorder, is caused by a non-coding ATTCT microsatellite repeat expansion in the ataxin 10 gene. In a subset of SCA10 families, the 5'-end of the repeat expansion contains a complex sequence of penta- and heptanucleotide interruption motifs which is followed by a pure tract of tandem ATCCT repeats of unknown length at its 3'-end. Intriguingly, expansions that carry these interruption motifs correlate with an epileptic seizure phenotype and are unstable despite the theory that interruptions are expected to stabilize expanded repeats. To examine the apparent contradiction of unstable, interruption-positive SCA10 e…

Male0301 basic medicineMolecular biologyInheritance Patternslcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionDatabase and Informatics MethodsSequencing techniquesAutosomal dominant cerebellar ataxiaMedicine and Health SciencesDNA sequencinglcsh:ScienceGeneticsMovement DisordersMultidisciplinaryNeurodegenerative DiseasesGenomicsPedigreePhenotypeNeurologyMutation (genetic algorithm)Spinocerebellar ataxiaFemaleSequence AnalysisResearch ArticleBioinformaticsBiologyAtaxin-1003 medical and health sciencesSequence Motif AnalysisMicrosatellite RepeatGeneticsmedicineHumansSpinocerebellar AtaxiasRepeated SequencesAlleleAllelesSequence (medicine)EpilepsyBase SequenceBiology and life scienceslcsh:RDideoxy DNA sequencingGenetic Variationmedicine.diseaseResearch and analysis methodsMolecular biology techniques030104 developmental biologyTandem Repeat Sequence AnalysisAtaxinMutationlcsh:QAtaxiaTrinucleotide repeat expansionMicrosatellite RepeatsPLOS ONE
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Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

2021

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by b-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cogni…

Male0301 basic medicineProbandPathologyProtein ConformationSequence Homology<i>SPTBN2 </i>geneb-III spectrin030105 genetics & heredityFluid-attenuated inversion recoveryCohort Studieslcsh:ChemistryNon-progressive congenital ataxia0302 clinical medicineβ-III spectrinSpectrin:enfermedades del sistema nervioso::enfermedades neurodegenerativas [ENFERMEDADES]Age of OnsetChildlcsh:QH301-705.5Spectroscopy:Otros calificadores::Otros calificadores::/genética [Otros calificadores]NeurodegenerationneurodegenerationNeurodegenerative Diseasesnon-progressive congenital ataxiaSyndromeGeneral MedicinePhenotypeHypotoniaComputer Science ApplicationsPhenotype:Nervous System Diseases::Neurodegenerative Diseases [DISEASES]Spinocerebellar ataxiamedicine.symptomSPTBN2 genemedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesCerebellar AtaxiaNeuroimagingBiologyCatalysisArticleInorganic Chemistry03 medical and health sciences:Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia [DISEASES]:Other subheadings::Other subheadings::/genetics [Other subheadings]medicineHumansAmino Acid SequencePhysical and Theoretical ChemistryNeurodegenerationMolecular BiologyGenetic Association StudiesOrganic ChemistrySpectrinmedicine.diseaseHyperintensitySistema nerviós - Degeneració - Aspectes genèticslcsh:Biology (General)lcsh:QD1-999:enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa [ENFERMEDADES]Mutation030217 neurology & neurosurgeryInternational Journal of Molecular Sciences
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A Natural Dietary Supplement with a Combination of Nutrients Prevents Neurodegeneration Induced by a High Fat Diet in Mice

2018

Obesity and metabolic disorders can be risk factors for the onset and development of neurodegenerative diseases. The aim of the present study was to investigate the protective effects of a natural dietary supplement (NDS), containing Curcuma longa, silymarin, guggul, chlorogenic acid and inulin, on dysmetabolism and neurodegeneration in the brains of high fat diet (HFD)-fed mice. Decrease in the expression of FACL-4, CerS-1, CerS-4, cholesterol concentration and increase in the insulin receptor expression and insulin signaling activation, were found in brains of NDS-treated HFD brains in comparison with HFD untreated-mice, suggesting that NDS is able to prevent brain lipid accumulation and …

Male0301 basic medicineobesityAntioxidantmedicine.medical_treatmentAnti-Inflammatory AgentsApoptosismedicine.disease_causeSettore BIO/09 - FisiologiaAntioxidantsLipid peroxidationchemistry.chemical_compound0302 clinical medicineinsulin resistanceInsulinnatural antioxidantsNutrition and DieteticsbiologyChemistryneurodegenerationobesity; HFD mice; natural antioxidants; insulin resistance; neurodegenerationBrainfood and beveragesNeurodegenerative Diseaseslipids (amino acids peptides and proteins)Inflammation Mediatorsmedicine.symptomlcsh:Nutrition. Foods and food supplySignal Transductionmedicine.medical_specialtylcsh:TX341-641endocrinology_metabolomicsInflammationDiet High-FatNeuroprotectionArticle03 medical and health sciencesInsulin resistanceInternal medicinemedicineAnimalsHFD miceCholesterolInsulinLipid Metabolismmedicine.diseaseMice Inbred C57BLDisease Models AnimalOxidative StressInsulin receptor030104 developmental biologyEndocrinologyDietary SupplementsNerve Degenerationbiology.proteinLipid Peroxidationnatural antioxidant030217 neurology & neurosurgeryOxidative stressFood ScienceNutrients
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A restricted population of CB1 cannabinoid receptors with neuroprotective activity.

2014

The CB1 cannabinoid receptor, the main molecular target of endocannabinoids and cannabis active components, is the most abundant G protein-coupled receptor in the mammalian brain. Of note, CB1 receptors are expressed at the synapses of two opposing (i.e., GABAergic/inhibitory and glutamatergic/excitatory) neuronal populations, so the activation of one and/or another receptor population may conceivably evoke different effects. Despite the widely reported neuroprotective activity of the CB1 receptor in animal models, the precise pathophysiological relevance of those two CB1 receptor pools in neurodegenerative processes is unknown. Here, we first induced excitotoxic damage in the mouse brain b…

MaleCannabinoid receptorPopulationNeurotoxinsExcitotoxicityGlutamic AcidBiologymedicine.disease_causeNeuroprotectionGlutamatergicMiceOrgan Culture TechniquesReceptor Cannabinoid CB1medicineAnimalsHumansGABAergic NeuronsReceptoreducationCaenorhabditis elegans ProteinsAgedCerebral CortexMice KnockoutNeuronseducation.field_of_studyMultidisciplinaryIntegrasesmusculoskeletal neural and ocular physiologyNeurodegenerative DiseasesBiological SciencesMiddle AgedReceptors GABA-AEndocannabinoid systemCorpus Striatumnervous systemGABAergiclipids (amino acids peptides and proteins)FemaleNeurosciencepsychological phenomena and processesEndocannabinoidsSynaptosomesProceedings of the National Academy of Sciences of the United States of America
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