Search results for "Alzheimer's Disease"

showing 10 items of 301 documents

Expression of endogenous mouse APP modulates β-amyloid deposition in hAPP-transgenic mice

2017

Amyloid-β (Aβ) deposition is one of the hallmarks of the amyloid hypothesis in Alzheimer’s disease (AD). Mouse models using APP-transgene overexpression to generate amyloid plaques have shown to model only certain parts of the disease. The extent to which the data from mice can be transferred to man remains controversial. Several studies have shown convincing treatment results in reducing Aβ and enhancing cognition in mice but failed totally in human. One model-dependent factor has so far been almost completely neglected: the endogenous expression of mouse APP and its effects on the transgenic models and the readout for therapeutic approaches. Here, we report that hAPP-transgenic models of …

0301 basic medicineGenetically modified mouseMaleMurine amyloid-betaBACE1-ASMice TransgenicPlaque Amyloidlcsh:RC346-429Pathology and Forensic Medicine03 medical and health sciencesCellular and Molecular NeuroscienceAmyloid beta-Protein Precursor0302 clinical medicineMeningesAmyloid precursor proteinMedicineAnimalsHumansTransgenic miceSenile plaqueslcsh:Neurology. Diseases of the nervous systemNeuronsAmyloid beta-Peptidesbiologybusiness.industryAmyloidosisResearchP3 peptideBrainAmyloidosismedicine.diseasePeptide FragmentsBiochemistry of Alzheimer's diseaseAstrogliosisCell biologyMice Inbred C57BL030104 developmental biologyCaspasesAmyloid precursor proteinMutationbiology.proteinAbetaFemaleNeurology (clinical)businessNeuroscienceAlzheimer’s disease030217 neurology & neurosurgery
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Neurodegeneration in tauopathies and synucleinopathies.

2016

International audience; While increasing life expectancy is a major achievement, the global aging of societies raises a number of medical issues, such as the development of age-related disorders, including neurodegenerative diseases. The three main disease groups constituting the majority of neurodegenerative diseases are tauopathies, alpha-synucleinopathies and diseases due to repetitions of glutamine (including Huntington's disease). In each neurodegenerative disease, the accumulation of one or more aggregated proteins has been identified as the molecular signature of the disease (as seen, for example, in Alzheimer's disease, Parkinson's disease, dementia with Lewy bodies, amyotrophic lat…

0301 basic medicineLewy Body DiseaseParkinson's disease[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyParkinson's diseaseDementia with Lewy bodiesMédecine humaine et pathologieDiseaseBioinformatics03 medical and health scienceschemistry.chemical_compound0302 clinical medicineParkinsonian Disorders[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyMedicineDementiaHumansCytoskeletonSynucleinopathiesAlpha-synucleinInclusion Bodiesbusiness.industryDementia with Lewy bodiesNeurodegenerative diseasesNeurodegenerationassociationBrainNeurodegenerative DiseasesAlzheimer's diseasemedicine.disease3. Good health030104 developmental biologyNeurologychemistryTauopathies[ SDV.NEU.NB ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyNerve Degenerationalpha-SynucleinDementiapathologyNeurology (clinical)businessNeuroscience030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyFrontotemporal dementiadementiaRevue neurologique
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

2017

International audience; We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68…

0301 basic medicineLinkage disequilibrium[SDV]Life Sciences [q-bio]MedizinSequence HomologyGenome-wide association studygenetics [Alzheimer Disease]metabolism [Microglia]Linkage Disequilibrium0302 clinical medicinegenetics [Protein Interaction Maps]genetics [Membrane Glycoproteins]Gene FrequencyImmunologicgenetics [Adaptor Proteins Signal Transducing]Receptorsgenetics [Exome]Odds RatioInnategenetics [Receptors Immunologic]ExomeProtein Interaction Mapsgenetics [Genetic Predisposition to Disease]Receptors ImmunologicABI3 protein humanGeneticsAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide; GeneticsMembrane GlycoproteinsAdaptor ProteinsSingle NucleotideAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide3. Good health[SDV] Life Sciences [q-bio]Amino AcidSettore MED/26 - NEUROLOGIAgenetics [Phospholipase C gamma][SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]MicrogliaAlzheimer's diseaseCommon disease-common variantGenotypeBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer Diseaseddc:570medicineJournal ArticleGeneticsHumansGenetic Predisposition to Disease[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Amino Acid SequencePolymorphismAllele frequencyAdaptor Proteins Signal TransducingTREM2 protein humanSequence Homology Amino AcidTREM2Phospholipase C gammaGene Expression ProfilingCase-control studySignal TransducingImmunitymedicine.diseaseR1Immunity InnateMinor allele frequencygenetics [Immunity Innate]030104 developmental biologyCase-Control StudiesHuman medicine030217 neurology & neurosurgery
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A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer.

2017

Epidemiological studies indicate that patients suffering from Alzheimer’s disease have a lower risk of developing lung cancer, and suggest a higher risk of developing glioblastoma. Here we explore the molecular scenarios that might underlie direct and inverse co-morbidities between these diseases. Transcriptomic meta-analyses reveal significant numbers of genes with inverse patterns of expression in Alzheimer’s disease and lung cancer, and with similar patterns of expression in Alzheimer’s disease and glioblastoma. These observations support the existence of molecular substrates that could at least partially account for these direct and inverse co-morbidity relationships. A functional analy…

0301 basic medicineLung NeoplasmsMolecular biology[SDV]Life Sciences [q-bio]Gene ExpressionDiseaseCàncer--Fisiologia patològicaComorbidityTranscriptomeMedicineDinàmica molecularMultidisciplinaryQLung Cancer:Enginyeria biomèdica [Àrees temàtiques de la UPC]R3. Good healthAlzheimer's disease (AD)MedicineDisease SusceptibilityAlzheimer's diseaseSignal transductionSignal TransductionCentral Nervous System (CNS)ScienceModels BiologicalArticle03 medical and health sciencesImmune systemcáncerAlzheimer DiseaseDementia[CHIM]Chemical SciencesHumansLung cancerbusiness.industryGenetic Variationmedicine.diseaseComorbidityCNS cancerAlzheimer Malaltia d'030104 developmental biologyGliobastomas (GBM)ImmunologyCancer researchDementiabusinessGlioblastomaReactive Oxygen SpeciesNon-small-cell lung cancerBiomarkers
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Resting-state posterior alpha rhythms are abnormal in subjective memory complaint seniors with preclinical Alzheimer's neuropathology and high educat…

2020

International audience; Cognitive reserve is present in Alzheimer's disease (AD) seniors with high education attainment making them clinically resilient to extended brain neuropathology and neurodegeneration. Here, we tested whether subjective memory complaint (SMC) seniors with AD neuropathology and high education attainment of the prospective INSIGHT-preAD cohort (Paris) may present abnormal eyesclosed resting state posterior electroencephalographic rhythms around individual alpha frequency peak, typically altered in AD patients. The SMC participants negative to amyloid PET AD markers (SMCneg) with high (over low-moderate) education level showed higher posterior alpha 2 power density (pos…

0301 basic medicineMaleAgingpsychology [Alzheimer Disease]alpha rhythms; INSIGHT-preAD study; preclinical Alzheimer's disease (AD); preclinical Alzheimer's neuropathology; resting state EEG rhythms; subjective memory complaint (SMC)physiopathology [Brain]Cohort Studies0302 clinical medicineCognitive ReserveMedicineProspective StudiesCognitive reserveAged 80 and over[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior4. EducationGeneral NeuroscienceNeurodegenerationdiagnosis [Alzheimer Disease]BrainCognitionElectroencephalographyMagnetic Resonance ImagingAlpha Rhythm[SCCO.PSYC]Cognitive science/PsychologyEducational StatusFemale[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]RestAlpha (ethology)NeuropathologyNeuroprotectionphysiopathology [Alzheimer Disease]03 medical and health sciencesRhythmAlzheimer DiseaseMemoryHumansddc:610AgedResting state fMRIbusiness.industry[SCCO.NEUR]Cognitive science/Neurosciencemedicine.disease030104 developmental biologyphysiology [Rest]Positron-Emission TomographyNeurology (clinical)Geriatrics and GerontologybusinessNeuroscience030217 neurology & neurosurgeryDevelopmental Biology
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Diagnostic accuracy of cerebrospinal fluid biomarkers measured by chemiluminescent enzyme immunoassay for Alzheimer disease diagnosis.

2020

In the last decades, an important role of cerebrospinal fluid (CSF) biomarkers for Alzheimer disease (AD) diagnosis has emerged. The evaluation of the triad consisting of 42 aminoacid-long amyloid-beta peptide (Aβ42), total Tau (tTau) and Tau phosphorylated at threonine 181 (pTau) have been recently integrated into the research diagnostic criteria of AD. For a long time, the enzyme-linked immunosorbent assay (ELISA) has represented the most commonly used method for the measurement of CSF biomarkers levels. This study aimed to assess the diagnostic accuracy of CSF biomarkers, namely Aβ42, tTau and pTau and their ratio, measured by fully automated CLEIA assay (Lumipulse). We included 96 patie…

0301 basic medicineMalePathologymedicine.medical_specialtyAmyloidClinical Biochemistrychemiluminescent enzyme immunoassay methodCSF biomarkerDiagnostic accuracyEnzyme-Linked Immunosorbent Assaytau Proteinslaw.invention03 medical and health sciences0302 clinical medicineCerebrospinal fluidliquorlawAlzheimer DiseasemedicineHumansPhosphorylationChemiluminescenceAgedchemistry.chemical_classificationAutomation LaboratoryAmyloid beta-Peptidesmedicine.diagnostic_testbusiness.industryGeneral MedicineCLEIAMiddle Agedmedicine.diseasePeptide Fragments030104 developmental biologyEnzymechemistryROC CurveImmunoassayArea Under CurveCase-Control StudiesCsf biomarkersLuminescent MeasurementsFemaleAlzheimer's diseasebusiness030217 neurology & neurosurgeryBiomarkersScandinavian journal of clinical and laboratory investigation
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Autoantibodies Profile in Matching CSF and Serum from AD and aMCI patients: Potential Pathogenic Role and Link to Oxidative Damage.

2015

Abstract Alzheimer disease (AD) is the most common form of dementia among the elderly and is characterized by progressive loss of memory and cognition. Amyloid-s-peptide (As) forms senile plaques, which, together with hyperphosphorylated tau-based neurofibrillary tangles, are the hallmarks of AD neuropathology. Evidence support the involvement of immune system in AD progression and current concepts regarding its pathogenesis include the participation of inflammatory and autoimmune components in the neurodegenerative process. Pathologically, immune system components have been detected in the brain, cerebrospinal fluid (CSF) and in serum of AD subjects and their trend of variation correlates …

0301 basic medicineMalePathologymedicine.medical_specialtyBlotting WesternNeuropathologyaged; aged 80 and over; alzheimer disease; autoantibodies; biomarkers; blotting western; cognitive dysfunction; female; frontal lobe; humans; male; mass spectrometry; oxidative stressmedicine.disease_causeMass SpectrometryAutoimmunity03 medical and health sciences0302 clinical medicineCerebrospinal fluidImmune systemAlzheimer DiseasemedicineDementiaHumansCognitive DysfunctionSenile plaquesAgedAutoantibodiesAged 80 and overAutoantibodymedicine.diseaseFrontal LobeOxidative Stress030104 developmental biologyNeurologyImmunologyFemaleNeurology (clinical)Alzheimer's diseasePsychology030217 neurology & neurosurgeryBiomarkersCurrent Alzheimer research
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Altered Gut Microbiome Composition and Tryptic Activity of the 5xFAD Alzheimer's Mouse Model.

2017

The regulation of physiological gut functions such as peristalsis or secretion of digestive enzymes by the central nervous system via the Nervus vagus is well known. Recent investigations highlight that pathological conditions of neurological or psychiatric disorders might directly interfere with the autonomous neuronal network of the gut - the enteric nervous system, or even derive from there. By using a murine Alzheimer's disease model, we investigated a potential influence of disease-associated changes on gastrointestinal properties. 5xFAD mice at three different ages were compared to wild type littermates in regard to metabolic parameters and enzymes of the gut by fluorimetric enzyme as…

0301 basic medicineMalemedicine.medical_specialtyAgingColonTransgeneCentral nervous systemMice TransgenicBiologyPresenilin03 medical and health sciencesAmyloid beta-Protein PrecursorEatingFeces0302 clinical medicineAlzheimer DiseaseInternal medicinemedicinePresenilin-1AnimalsHumansTrypsinMicrobiomeGeneral NeuroscienceGastrointestinal MicrobiomeBody WeightWild typeGeneral Medicinemedicine.diseaseGastrointestinal MicrobiomeMice Inbred C57BLPsychiatry and Mental healthClinical PsychologyDisease Models Animal030104 developmental biologymedicine.anatomical_structureEndocrinologyImmunologyEnteric nervous systemGeriatrics and GerontologyAlzheimer's disease030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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Formin 2 links neuropsychiatric phenotypes at young age to an increased risk for dementia

2017

Age-associated memory decline is due to variable combinations of genetic and environmental risk factors. How these risk factors interact to drive disease onset is currently unknown. Here we begin to elucidate the mechanisms by which post-traumatic stress disorder (PTSD) at a young age contributes to an increased risk to develop dementia at old age. We show that the actin nucleator Formin 2 (Fmn2) is deregulated in PTSD and in Alzheimer's disease (AD) patients. Young mice lacking the Fmn2 gene exhibit PTSD-like phenotypes and corresponding impairments of synaptic plasticity, while the consolidation of new memories is unaffected. However, Fmn2 mutant mice develop accelerated age-associated me…

0301 basic medicineMalememoriaAginggenetics [Stress Disorders Post-Traumatic]Diseasegenetics [Neuronal Plasticity]BioinformaticsdemenciaStress Disorders Post-TraumaticMice0302 clinical medicineRisk FactorsNews & ViewsAge of OnsetMice KnockoutNeuronal PlasticitybiologyGeneral NeuroscienceMicrofilament ProteinsNuclear Proteinsgenetics [Nuclear Proteins]FearadultoMiddle AgedAlzheimer's diseasephysiology [Aging]Phenotype3. Good healthPhenotypemiedoFormin 2Forminsgenetics [Aging]estres postraumaticoepidemiology [Stress Disorders Post-Traumatic]AdultHDAC inhibidorpsychology [Dementia]alzheimerForminsNerve Tissue Proteinsepidemiology [Dementia]Affect (psychology)General Biochemistry Genetics and Molecular Biology03 medical and health sciencesHDAC inhibitorMemorygenetics [Dementia]ddc:570medicineDementiaAnimalsHumansenvejecimientoMolecular Biologyphysiology [Memory]General Immunology and MicrobiologyPost-traumatic stress disordermedicine.diseaseYoung age030104 developmental biologyformin 2 protein mouseCase-Control StudiesSynaptic plasticitybiology.proteinDementiagenetics [Microfilament Proteins]complications [Stress Disorders Post-Traumatic]030217 neurology & neurosurgeryHomeostasis
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Effects of acetyl-l-carnitine in diabetic neuropathy and other geriatric disorders

2018

A long history of diabetes mellitus and increasing age are associated with the onset of diabetic neuropathy, a painful and highly disabling complication with a prevalence peaking at 50% among elderly diabetic patients. Acetyl-l-carnitine (ALC) is a molecule derived from the acetylation of carnitine in the mitochondria that has an essential role in energy production. It has recently been proposed as a therapy to improve the symptoms of diabetic neuropathy. ALC is widely distributed in mammalian tissues, including the brain, blood–brain barrier, brain neurons, and astrocytes. Aside from its metabolic activity, ALC has demonstrated cytoprotective, antioxidant, and antiapoptotic effects in the …

0301 basic medicineNervous systemAgingmedicine.medical_specialtyDiabetic neuropathyDiabetic neuropathyPainNeurotrophic effectAcetyl-l-carnitine; Analgesia; Diabetic neuropathy; Neurotrophic effect; Aging; Geriatrics and GerontologyNO03 medical and health sciences0302 clinical medicineDiabetic NeuropathiesAlzheimer DiseaseInternal medicineDiabetes mellitusmedicineHumansCarnitineAcetyl-l-carnitine; Analgesia; Diabetic neuropathy; Neurotrophic effectAcetylcarnitineAcetyl-l-carnitine Diabetic neuropathy Analgesia Neurotrophic effectAgedAnalgesicsbusiness.industryGlutamate receptormedicine.diseaseMitochondriaAcetyl-l-carnitine030104 developmental biologyNerve growth factorEndocrinologymedicine.anatomical_structureAnalgesiaGeriatrics and GerontologyAlzheimer's diseaseAcetylcarnitinebusiness030217 neurology & neurosurgerymedicine.drug
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