Search results for "Myelin"

showing 10 items of 329 documents

Myelin: Methods for Purification and Proteome Analysis

2019

Molecular characterization of myelin is a prerequisite for understanding the normal structure of the axon/myelin-unit in the healthy nervous system and abnormalities in myelin-related disorders. However, reliable molecular profiles necessitate very pure myelin membranes, in particular when considering the power of highly sensitive "omics"-data acquisition methods. Here, we recapitulate the history and recent applications of myelin purification. We then provide our laboratory protocols for the biochemical isolation of a highly pure myelin-enriched fraction from mouse brains and for its proteomic analysis. We also supply methodological modifications when investigating posttranslational modifi…

0301 basic medicineChemistryLipidomeProteomicsOligodendrocyteCell biologyWhite matter03 medical and health sciencesMyelin030104 developmental biology0302 clinical medicinemedicine.anatomical_structurenervous systemProteomemedicineDensity gradient ultracentrifugationAxon030217 neurology & neurosurgery
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Dual role of the RNA helicase DDX5 in post-transcriptional regulation of Myelin Basic Protein in oligodendrocytes

2017

In the central nervous system, oligodendroglial expression of Myelin Basic Protein (MBP) is crucial for the assembly and structure of the myelin sheath. MBP synthesis is tightly regulated in space and time, particularly on the post-transcriptional level. We have identified the DEAD-box RNA helicase DDX5 (alias p68) in a complex with Mbp mRNA in oligodendroglial cells. Expression of DDX5 is highest in progenitor cells and immature oligodendrocytes, where it localizes to heterogeneous populations of cytoplasmic ribonucleoprotein (RNP) complexes associated with Mbp mRNA in the cell body and processes. Manipulation of DDX5 protein amounts inversely affects levels of MBP protein. We present evid…

0301 basic medicineCytoplasmBiologyDEAD-box RNA HelicasesMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineProtein biosynthesismedicineAnimalsHumansRNA Processing Post-TranscriptionalPost-transcriptional regulationRibonucleoproteinMessenger RNADDX5Myelin Basic ProteinCell BiologyRNA Helicase AOligodendrocyteCell biologyMyelin basic proteinMice Inbred C57BLOligodendroglia030104 developmental biologymedicine.anatomical_structurechemistrybiology.protein030217 neurology & neurosurgeryJournal of Cell Science
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Inflammatory demyelination induces ependymal modifications concomitant to activation of adult (SVZ) stem cell proliferation

2017

Ependymal cells (E1/E2) and ciliated B1cells confer a unique pinwheel architecture to the ventricular surface of the subventricular zone (SVZ), and their cilia act as sensors to ventricular changes during development and aging. While several studies showed that forebrain demyelination reactivates the SVZ triggering proliferation, ectopic migration, and oligodendrogenesis for myelin repair, the potential role of ciliated cells in this process was not investigated. Using conventional and lateral wall whole mount preparation immunohistochemistry in addition to electron microscopy in a forebrain-targeted model of experimental autoimmune encephalomyelitis (tEAE), we show an early decrease in num…

0301 basic medicineEpendymal CellCell divisionCellSubventricular zoneBiologyCell biologyB-1 cell03 medical and health sciencesCellular and Molecular NeuroscienceMyelin030104 developmental biology0302 clinical medicinemedicine.anatomical_structurenervous systemNeurologymedicineMotile ciliumStem cellNeuroscience030217 neurology & neurosurgeryGlia
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Role of the epigenetic factor Sirt7 in neuroinflammation and neurogenesis.

2017

Epigenetic regulators are increasingly recognized as relevant modulators in the immune and nervous system. The class of sirtuins consists of NAD+-dependent histone deacetylases that regulate transcription. Sirtuin family member Sirt1 has already been shown to influence the disease course in an animal model of autoimmune neuroinflammation (experimental autoimmune encephalomyelitis (EAE). A role of Sirt7, a related epigenetic regulator, on immune system regulation has been proposed before, as these mice are more susceptible to develop inflammatory cardiomyopathy. Sirt7-/- animals showed no differences in clinical score compared to wild-type littermates after EAE induction with myelin oligoden…

0301 basic medicineEpigenetic regulation of neurogenesisEncephalomyelitis Autoimmune ExperimentalNeurogenesisAdaptive ImmunityHippocampusT-Lymphocytes RegulatoryMyelin oligodendrocyte glycoproteinEpigenesis Genetic03 medical and health sciencesImmune systemmedicineAnimalsSirtuinsNeuroinflammationCell ProliferationMice KnockoutNeuronsbiologyGeneral NeuroscienceExperimental autoimmune encephalomyelitisNeurogenesisGeneral Medicinemedicine.diseaseAcquired immune systemMice Inbred C57BL030104 developmental biologyImmunologySirtuinbiology.proteinEncephalitisFemaleNeuroscienceNeuroscience research
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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

2017

Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests…

0301 basic medicineGuias de prática clínica como assuntomedicine.medical_specialtyConsensusLysosomal storage disorderClinical Decision-MakingMEDLINEDiseaseDiagnosis Differential03 medical and health sciencesSpecial Article0302 clinical medicineInternal medicinemedicineHumansacid sphingomyelin deficiencyGenetic TestingDisease management (health)Intensive care medicineDoenças de Niemann-PickGenetics (clinical)PulmonologistsGenetic testingmedicine.diagnostic_testbusiness.industryNiemann-Pick disease types A and BEvidence-based medicineGuidelineNiemann-Pick Disease Type BNiemann-Pick Disease Type A030104 developmental biologyEndocrinologyPhenotypeSphingomyelin PhosphodiesteraseMutationPractice Guidelines as TopicMedical geneticslysosomal storage disorderbusiness030217 neurology & neurosurgeryAlgorithmsBiomarkersAcid sphingomyelin deficiency
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Oligodendrocytes control potassium accumulation in white matter and seizure susceptibility

2018

Oligodendrocytes Control Potassium Accumulation in White Matter and Seizure Susceptibility.Larson VA, Mironova Y, Vanderpool KG, Waisman A, Rash JE, Agarwal A, Bergles DE. Elife. 2018 Mar 29;7. pii: e34829. doi: 10.7554/eLife.34829.The inwardly rectifying K+ channel Kir4.1 is broadly expressed by central nervous system glia and deficits in Kir4.1 lead to seizures and myelin vacuolization. However, the role of oligodendrocyte Kir4.1 channels in controlling myelination and K+ clearance in white matter has not been defined. Here, we show that selective deletion of Kir4.1 from oligodendrocyte progenitors or mature oligodendrocytes did not impair their development or disrupt the structure of mye…

0301 basic medicineKir4.1QH301-705.5seizureScienceMice TransgenicGeneral Biochemistry Genetics and Molecular BiologyWhite matterMice03 medical and health sciencesEpilepsyMyelin0302 clinical medicineSeizuresmedicineExtracellularAnimalsHomeostasisBiology (General)Potassium Channels Inwardly RectifyingProgenitor cellMyelin SheathMice KnockoutGeneral Immunology and MicrobiologyChemistryGeneral NeuroscienceQRGeneral Medicinemedicine.diseaseWhite MatterCurrent Literature in Basic ScienceOligodendrocyteCell biologymyelinOligodendroglia030104 developmental biologymedicine.anatomical_structureVacuolizationPotassiumepilepsyMedicineoligodendrocyteGene Deletion030217 neurology & neurosurgeryHomeostasiseLife
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Diversity in the Oligodendrocyte Lineage: Current Evidence

2019

Summary Oligodendrocyte progenitor cells (OPCs), which differentiate into myelinating oligodendrocytes during CNS development, are the main proliferative cells in the adult brain. OPCs are conventionally considered a homogeneous population, particularly with respect to their electrophysiological properties, but this has been debated. We show, by using single-cell electrophysiological recordings, that OPCs start out as a homogeneous population but become functionally heterogeneous, varying both within and between brain regions and with age. These electrophysiological changes in OPCs correlate with the differentiation potential of OPCs; thus, they may underlie the differentiational difference…

0301 basic medicineLineage (genetic)glianeurotransmitter receptorsOligodendrocyte progenitorglutamateBiologyArticleoligodendrocyte precursor cell03 medical and health sciences0302 clinical medicineNeurotransmitter receptormedicineCell LineageProgenitor cellIon channelNeuronsOligodendrocyte Precursor CellsGeneral Neuroscienceion channelsdifferentiationbioelectricityelectrophysiologyOligodendrocytestomatognathic diseasesOligodendrogliamyelin030104 developmental biologymedicine.anatomical_structurenervous systemNeuronNeuroscienceoligodendrocyte030217 neurology & neurosurgeryDiversity (business)Neuron
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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

2019

Supplemental Digital Content is available in the text.

0301 basic medicineLysine-tRNA LigaseMalePathologyMagnetic Resonance SpectroscopyMedizinmembrane proteins030204 cardiovascular system & hematologyMitochondrionDeafnessmedicine.disease_causeCompound heterozygosityCorrectionsLeukoencephalopathyMyelin0302 clinical medicineCytosolLeukoencephalopathies030212 general & internal medicineOvarian DiseasesTransfer RNA AminoacylationChildZebrafishMUTATIONExome sequencing10012MutationBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle AgedDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance ImagingMitochondriaProtein Transportendoplasmic reticulummedicine.anatomical_structureChild PreschoolTransfer RNAComputingMethodologies_DOCUMENTANDTEXTPROCESSING/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological AssayFemaleWRBRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultcardiomyopathiesmedicine.medical_specialtyMitochondrial diseaseAminoacylationMuscle disorderBiologyArticleMEDIATES INSERTIONAmino Acyl-tRNA Synthetases03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineAnimalsPoint MutationHumansAmino Acid SequenceAlleleAllelesCOMPLEXGenetic heterogeneitybusiness.industryArsenite Transporting ATPasesLeukodystrophyGenetic Variation10090Original ArticlesZebrafish Proteinsbiology.organism_classificationDILATED CARDIOMYOPATHYmedicine.diseasezebrafishGENEMolecular biologyDisease Models Animal030104 developmental biologyMembrane protein[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics10084Neurology (clinical)Transfer RNA AminoacylationMEMBRANEbusinessSequence Alignment030217 neurology & neurosurgeryexomeNeurology
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Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure.

2017

Hypertension represents a major cardiovascular risk factor. The pathophysiology of increased blood pressure (BP) is not yet completely understood. Transcriptome profiling offers possibilities to uncover genetics effects on BP. Based on 2 populations including 2549 individuals, a meta-analyses of monocytic transcriptome-wide profiles were performed to identify transcripts associated with BP. Replication was performed in 2 independent studies of whole-blood transcriptome data including 1990 individuals. For identified candidate genes, a direct link between long-term changes in BP and gene expression over time and by treatment with BP-lowering therapy was assessed. The predictive value of pro…

0301 basic medicineMaleCandidate geneGene ExpressionGenome-wide association studyBlood Pressure030204 cardiovascular system & hematologyCardiorespiratory Medicine and HaematologyCardiovascularLMNATranscriptome0302 clinical medicineRisk FactorsCEBPAGene expression2.1 Biological and endogenous factorsAetiologyGeneticsMyelin and Lymphocyte-Associated Proteolipid ProteinsBlood Pressure ; Gene Expression ; Genome-wide Association Study ; Hypertension ; Transcriptomeblood pressureGenomicsSingle NucleotideLIM Domain Proteinsblood pressure; gene expression; genome-wide association study; hypertension; transcriptomeStrokeHeart DiseaseHypertensionPublic Health and Health ServicesBiomarker (medicine)FemaleEssential HypertensionPoly(ADP-ribose) PolymerasesBiotechnologyAdulthypertensionClinical SciencesNucleoside Transport ProteinsBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesClinical ResearchInternal MedicineGeneticsHumansPolymorphismgenome-wide association studyGene Expression ProfilingHuman GenomeBlood Pressure DeterminationGene expression profiling030104 developmental biologyGood Health and Well BeingCardiovascular System & Hematologygene expressionCCAAT-Enhancer-Binding ProteinsCarrier ProteinstranscriptomeTranscription Factors
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General control non-derepressible 2 (GCN2) in T cells controls disease progression of autoimmune neuroinflammation.

2016

Relapsing-remitting multiple sclerosis (MS)(2) is characterized by phases of acute neuroinflammation followed by spontaneous remission. Termination of inflammation is accompanied by an influx of regulatory T cells (Tregs).(3) The molecular mechanisms responsible for directing Tregs into the inflamed CNS tissue, however, are incompletely understood. In an MS mouse model we show that the stress kinase general control non-derepressible 2 (GCN2),(4) expressed in T cells, contributes to the resolution of autoimmune neuroinflammation. Failure to recover from acute inflammation was associated with reduced frequencies of CNS-infiltrating Tregs. GCN2 deficient Tregs displayed impaired migration to a…

0301 basic medicineMaleChemokineEncephalomyelitis Autoimmune ExperimentalTime FactorsT cellImmunologyInflammationSpontaneous remissionMice TransgenicCCL2Protein Serine-Threonine KinasesT-Lymphocytes RegulatoryStatistics Nonparametric03 medical and health sciencesMice0302 clinical medicineCell MovementmedicineImmunology and AllergyAnimalsAnnexin A5NeuroinflammationbiologyKinaseMultiple sclerosisBrainEndothelial Cellsmedicine.diseaseFlow CytometryPeptide FragmentsMice Inbred C57BLDisease Models Animal030104 developmental biologymedicine.anatomical_structureNeurologyAstrocytesImmunologybiology.proteinDisease ProgressionCytokinesFemaleMyelin-Oligodendrocyte GlycoproteinNeurology (clinical)medicine.symptom030215 immunologyJournal of neuroimmunology
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