Search results for "Cholesterol Esters"

showing 10 items of 18 documents

Lysosomal acid lipase deficiency: Expanding differential diagnosis.

2016

The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia. Evidence suggests LAL-D may be substantially underdiagnosed or misdiagnosed, which is critical given that dis…

0301 basic medicineMalemedicine.medical_specialtyPathologyAdolescentEndocrinology Diabetes and MetabolismDiseaseLysosomal acid lipase deficiencyBiochemistryGastroenterologyDiagnosis Differential03 medical and health sciences0302 clinical medicineEndocrinologyInternal medicineGeneticsmedicineLysosomal storage diseaseHumansChildMolecular BiologyTriglyceridesNiemann-Pick DiseasesGaucher Diseasebusiness.industryWolman DiseaseInfantEnzyme replacement therapySterol Esterasemedicine.diseaseClinical trial030104 developmental biologyEarly DiagnosisSebelipase alfaDisease Progression030211 gastroenterology & hepatologyFemaleCholesterol EstersDifferential diagnosisbusinessDyslipidemiaMolecular genetics and metabolism
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Large-scale screening of lipase acid deficiency in at risk population

2021

International audience; BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biol…

0301 basic medicinemedicine.medical_specialty[SDV]Life Sciences [q-bio]Clinical BiochemistryAcid lipase deficiencyDBSSpleenDried blood spotLysosomal acid lipase deficiencyBiochemistryGastroenterologyCESDCholesterol ester storage disease03 medical and health sciences0302 clinical medicinePregnancyLysosomeInternal medicinemedicineHumansAllelebusiness.industryBiochemistry (medical)Infant NewbornWolman DiseaseLipaseGeneral MedicineCholesterol ester storage diseaseLALSterol Esterasemedicine.diseasePhenotype3. Good healthDried blood spot[SDV] Life Sciences [q-bio]030104 developmental biologymedicine.anatomical_structureWolman030220 oncology & carcinogenesisCohortScreeningFemaleCholesterol Estersbusiness
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Inability of HDL from abdominally obese subjects to counteract the inhibitory effect of oxidized LDL on vasorelaxation.

2007

Abdominal obesity is associated with a decreased plasma concentration of HDL cholesterol and with qualitative modifications of HDL, such as triglyceride enrichment. Our aim was to determine, in isolated aorta rings, whether HDL from obese subjects can counteract the inhibitory effect of oxidized low density lipoprotein (OxLDL) on endothelium-dependent vasodilation as efficiently as HDL from normolipidemic, lean subjects. Plasma triglycerides were 74% higher (P < 0.005) in obese subjects compared with controls, and apolipoprotein A-I (apoA-I) and HDL cholesterol concentrations were 12% and 17% lower (P < 0.05), respectively. HDL from control subjects significantly reduced the inhibitory effe…

AdultMalemedicine.medical_specialtyApolipoprotein BVasodilator Agentsapolipoprotein A-IVasodilationQD415-436In Vitro TechniquesBiochemistrychemistry.chemical_compoundEndocrinologyHigh-density lipoproteinInternal medicinemedicineAnimalsHumansObesityInhibitory effectAbdominal obesityAortaTriglyceridesbiologyTriglycerideCholesterolCholesterol HDLnutritional and metabolic diseasesCell BiologyMiddle Agedmedicine.diseaseObesityAcetylcholineLipoproteins LDLVasodilationEndocrinologychemistryhigh density lipoproteinbiology.proteinoxidized low density lipoproteinlipids (amino acids peptides and proteins)FemaleCholesterol EstersRabbitsmedicine.symptomJournal of lipid research
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Interaction of the Vibrio cholerae cytolysin (VCC) with cholesterol, some cholesterol esters, and cholesterol derivatives: a TEM study.

2002

The Vibrio cholerae cytolysin (VCC) 63-kDa monomer has been shown to interact in aqueous suspension with cholesterol microcystals to produce a ring/pore-like heptameric oligomer approximately 8 nm in outer diameter. Transmission electron microscopy data were produced from cholesterol samples adsorbed to carbon support films, spread across the holes of holey carbon films, and negatively stained with ammonium molybdate. The VCC oligomers initially attach to the edge of the stacked cholesterol bilayers and with increasing time cover the two planar surfaces. VCC oligomers are also released into solution, with some tendency to cluster, possibly via the hydrophobic membrane-spanning domain. At th…

ErgosterolLiposomeCytotoxinsTemperatureOligomerNegative stainProtein Structure TertiaryCrystallographychemistry.chemical_compoundMicroscopy ElectronMonomerCholesterolchemistryPulmonary surfactantModels ChemicalStructural BiologySide chainImage Processing Computer-Assistedlipids (amino acids peptides and proteins)CytolysinCholesterol EstersVibrio choleraeFluorescent DyesJournal of structural biology
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Effect of a 2-y dietary and physical activity intervention on plasma fatty acid composition and estimated desaturase and elongase activities in child…

2016

Background: Evidence on the effects of lifestyle interventions on plasma fatty acid composition in children is limited. Objective: We investigated the effects of a dietary and physical activity intervention on plasma fatty acid composition of cholesteryl esters (CEs) and phospholipids and estimated desaturase and elongase activities in children. Design: We conducted a 2-y controlled dietary and physical activity intervention based on Finnish nutrition and physical activity recommendations in a population sample of 506 children aged 6–8 y. We assessed plasma fatty acid composition by gas chromatography and estimated desaturase and elongase activities as the ratio of product fatty acids to pr…

Fatty Acid DesaturasesMaleHealth BehaviorMedicine (miscellaneous)physical activity030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineFood scienceChildta315FinlandPhospholipidsinterventionchemistry.chemical_classificationNutrition and Dieteticsalpha-Linolenic Acidta3141elongaseLipidsTreatment OutcomeBiochemistrycholesteryl esterFatty Acids UnsaturatedCholesteryl esterFemaleCholesterol EstersStearic acidPolyunsaturated fatty acidFatty Acid ElongasesLinoleic acidPhysical activityPhospholipidGuidelines as Topic030209 endocrinology & metabolismHealth Promotionta3111Linoleic Acid03 medical and health scienceschildrenAcetyltransferasesHumansExerciseLife StylephospholipidFatty acidOleic acidchemistryfatty aciddietdesaturaseAmerican Journal of Clinical Nutrition
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Liver fatty acid composition in the spontaneously diabetic BB rat.

1991

The purpose of the present experiment was to investigate if the modulation by insulin of liver microsomal desaturase activities in the spontaneously diabetic adult male Bio-Breeding (BB) rat, with destructive insulitis resembling the lesions described in the human Type I (insulin-dependent) diabetes, corresponds to modifications in fatty acid composition, reflect of changes in fatty acid desaturation. We observed no significant differences between BB rats, during the hyper-(48 h), the normo-(17 h) and the hypo-glycemic (3 h) periods which followed the insulin injection, and control rats for the fatty acid composition of liver total lipids, phosphatidylethanolamines, phosphatidylcholines, tr…

Fatty Acid DesaturasesMalemedicine.medical_specialtymedicine.medical_treatmentLinoleic acidArachidonic AcidsBiologyDiabetes Mellitus ExperimentalLinoleic Acidchemistry.chemical_compoundDiabetes mellitusInternal medicinemedicineAnimalsInsulinRats Inbred BBTriglycerideschemistry.chemical_classificationArachidonic AcidCholesterolInsulinPhosphatidylethanolaminesFatty AcidsFatty acidGeneral Medicinemedicine.diseaseLipid MetabolismRatsEndocrinologychemistryLinoleic AcidsLiverMicrosomeMicrosomes LiverPhosphatidylcholinesArachidonic acidCholesterol EstersInsulitisArchives internationales de physiologie, de biochimie et de biophysique
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Unsaturated Fatty Acids Drive Disintegrin and Metalloproteinase (ADAM)-dependent Cell Adhesion, Proliferation, and Migration by Modulating Membrane F…

2011

The disintegrin-metalloproteinases ADAM10 and ADAM17 mediate the release of several cell signaling molecules and cell adhesion molecules such as vascular endothelial cadherin or L-selectin affecting endothelial permeability and leukocyte transmigration. Dysregulation of ADAM activity may contribute to the pathogenesis of vascular diseases, but the mechanisms underlying the control of ADAM functions are still incompletely understood. Atherosclerosis is characterized by lipid plaque formation and local accumulation of unsaturated free fatty acids (FFA). Here, we show that unsaturated FFA increase ADAM-mediated substrate cleavage. We demonstrate that these alterations are not due to genuine ch…

KeratinocytesMembrane FluidityADAM10Lipid BilayersVascular permeabilityBiologyADAM17 ProteinBiochemistryCapillary PermeabilityADAM10 ProteinCell MovementMembrane fluidityCell AdhesionAnimalsHumansCell adhesionMolecular BiologyCell ProliferationCell adhesion moleculeCell growthFluorescence recovery after photobleachingEndothelial CellsMembrane ProteinsCell BiologyAtherosclerosisADAM ProteinsCell biologyLipoproteins LDLADAM ProteinsHEK293 CellsFatty Acids UnsaturatedCholesterol EstersRabbitsAmyloid Precursor Protein SecretasesGranulocytes
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Myristic acid is associated to low plasma HDL cholesterol levels in a Mediterranean population and increases HDL catabolism by enhancing HDL particle…

2016

Background: HDL-C plasma levels are modulated by dietary fatty acid (FA), but studies investigating dietary supplementation in FA gave contrasting results. Saturated FA increased HDL-C levels only in some studies. Mono-unsaturated FA exerted a slight effect while poly-unsaturated FA mostly increased plasma HDL-C. Aims: This study presents two aims: i) to investigate the relationship between HDL-C levels and plasma FA composition in a Sicilian population following a "Mediterranean diet", ii) to investigate if FA that resulted correlated with plasma HDL-C levels in the population study and/or very abundant in the plasma were able to affect HDL catabolism in an "in vitro" model of cultured hep…

Male0301 basic medicineSettore MED/09 - Medicina InternaMediterranean dietCellHepG2 cellMyristic acid030204 cardiovascular system & hematologyDiet MediterraneanMyristic AcidSettore MED/13 - Endocrinologiachemistry.chemical_compound0302 clinical medicineSicilyeducation.field_of_studyLiver NeoplasmsHep G2 CellsMiddle Agedmedicine.anatomical_structurePopulation studyFemalelipids (amino acids peptides and proteins)Composition (visual arts)Cholesterol EstersCardiology and Cardiovascular MedicinePopulation studyProtein BindingAdultmedicine.medical_specialtyCarcinoma HepatocellularPopulationHDL cholesterol level03 medical and health sciencesInternal medicinemedicineHumanseducationAgedFatty acids; HDL cholesterol levels; HepG2 cells; Population study; Cardiology and Cardiovascular MedicineCatabolismbusiness.industryCholesterolCholesterol HDLMembrane Proteinsnutritional and metabolic diseasesFatty acidKinetics030104 developmental biologyEndocrinologychemistrybusinessBiomarkersHeparan Sulfate ProteoglycansAtherosclerosis
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ApoB100,LDLR-/- mice exhibit reduced electroretinographic response and cholesteryl esters deposits in the retina

2008

International audience; PURPOSE. To evaluate the retinal phenotype of 7- and 14-month-old apoB100,LDLR–/– mice, a relevant animal model of lipid metabolism dysfunction. METHODS. Single-flash electroretinograms were obtained from 7- and 14-month-old apoB100,LDLR–/– and control mice fed a standard diet under both scotopic and photopic conditions. Visual cycle retinoids were analyzed in eyes from dark-adapted mice. Retinal and choroidal vascularization was evaluated with scanning laser ophthalmoscopy. Fatty acids were analyzed in the retina. Esterified and free cholesterol was detected in eye cryosections. RESULTS. Scotopic and photopic b-wave amplitudes were significantly reduced in apoB100,L…

MaleHUMAN BRUCHS MEMBRANEgenetic structuresHIGH-FAT DIETLipid Metabolism DisordersBasement MembraneAGE-RELATED MACULOPATHYchemistry.chemical_compoundMice0302 clinical medicine[SDV.IDA]Life Sciences [q-bio]/Food engineeringFluorescein AngiographyPigment Epithelium of EyeTRANSGENIC MICE0303 health sciencesmedicine.diagnostic_testROD OUTER SEGMENTSmedicine.anatomical_structureBiochemistryHUMAN APOLIPOPROTEIN-BApolipoprotein B-100Femalelipids (amino acids peptides and proteins)Cholesterol EstersPhotopic visionVisual phototransductionmedicine.medical_specialtyDark AdaptationMice TransgenicBiologyRetinaRECEPTOR-NEGATIVE MICE03 medical and health sciencesRetinoidsRetinal DiseasesBASAL DEPOSITSInternal medicinemedicineElectroretinographyAnimals[SPI.GPROC]Engineering Sciences [physics]/Chemical and Process EngineeringFilipinHUMAN ATHEROSCLEROTIC LESIONS030304 developmental biologyRetinaRetinal pigment epitheliumRetinalMacular degenerationmedicine.diseaseMACULAR DEGENERATIONeye diseasesMice Inbred C57BLOphthalmoscopyEndocrinologychemistryReceptors LDLLDL receptor030221 ophthalmology & optometrysense organsPhotic StimulationElectroretinography
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Lipid and fatty acid profile of the retina, retinal pigment epithelium/choroid, and the lacrimal gland, and associations with adipose tissue fatty ac…

2008

International audience; Accumulation of lipids within Bruch’s membrane (BrM) and between BrM and retinal pigment epithelium (RPE) accounts for one of the biological changes associated with normal aging and may contribute to the development of age-related maculopathies. The origin of these lipids is still being actively investigated. The relative contribution of plasma lipids and lipids coming from the neural retina remains a matter of controversy. Low-density lipoproteins (LDLs) have been reported to significantly participate in the retina’s lipid supply, after active remodeling within RPE. Meanwhile, RPE expresses the enzymatic machinery for synthesizing lipoprotein-like particles. The obj…

Malegenetic structuresNUTRUTIONAdipose tissueRetinal Pigment EpitheliumBruch's membranechemistry.chemical_compound0302 clinical medicine[SDV.IDA]Life Sciences [q-bio]/Food engineeringLIPIDRETINAPhospholipidsAged 80 and overchemistry.chemical_classification0303 health sciencesFatty AcidsLacrimal ApparatusMiddle AgedLipidsSensory Systems3. Good healthmedicine.anatomical_structureAdipose TissueBiochemistryFemalelipids (amino acids peptides and proteins)Cholesterol EstersOrbitmedicine.medical_specialtyLinoleic acidEPITHELIUMLacrimal glandBiologyBRUCH'S MEMBRANE03 medical and health sciencesCellular and Molecular NeuroscienceInternal medicineRETINAL PIGMENTmedicineHumans[SPI.GPROC]Engineering Sciences [physics]/Chemical and Process EngineeringAged030304 developmental biologyRetinaRetinal pigment epitheliumChoroidFatty acideye diseasesLACRIMAL GLANDOphthalmologyEndocrinologychemistry030221 ophthalmology & optometryChoroidsense organs
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