Search results for "cholesterol ester"

showing 10 items of 37 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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Exercise Training Favorably Modulates Gene and Protein Expression That Regulate Arterial Cholesterol Content in CETP Transgenic Mice

2018

Aerobic exercise training (AET) improves the reverse cholesterol transport (RCT) in cholesteryl ester transfer protein-transgenic (CETP-tg) mice. We aimed at investigating the role of AET in the expression of genes and proteins involved in lipid flux in the aorta and macrophages of CETP-tg mice. Three-month-old male mice were randomly divided into trained (T; treadmill 15 m/min; 30 min/day) and sedentary (S) groups. After 6 weeks, peritoneal macrophages and the aortic arch were obtained immediately (0 h) or 48 h after the last exercise session. mRNA was determined by RT-qPCR, protein levels by immunoblot and 14C-cholesterol efflux determined in macrophages. AET did not change body weight, p…

0301 basic medicinemedicine.medical_specialtyPhysiologymacrophage cholesterol effluxPeroxisome proliferator-activated receptor030204 cardiovascular system & hematologylcsh:Physiology03 medical and health scienceschemistry.chemical_compound0302 clinical medicinecholesterol ester transfer proteinPhysiology (medical)Internal medicineGene expressionCholesterylester transfer proteinmedicineAerobic exerciseOriginal Researchchemistry.chemical_classificationlcsh:QP1-981biologyCholesterolReverse cholesterol transportreverse cholesterol transport030104 developmental biologyEndocrinologychemistrybiology.proteinCholesteryl esterTERAPIA POR EXERCÍCIOlipids (amino acids peptides and proteins)Tumor necrosis factor alphaatherosclerosisexercise training
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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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Liver X Receptor–Mediated Induction of Cholesteryl Ester Transfer Protein Expression Is Selectively Impaired in Inflammatory Macrophages

2009

Objective— Cholesteryl ester transfer protein (CETP) is a target gene for the liver X receptor (LXR). The aim of this study was to further explore this regulation in the monocyte-macrophage lineage and its modulation by lipid loading and inflammation, which are key steps in the process of atherogenesis. Methods and Results— Exposure of bone marrow–derived macrophages from human CETP transgenic mice to the T0901317 LXR agonist increased CETP, PLTP, and ABCA1 mRNA levels. T0901317 also markedly increased CETP mRNA levels and CETP production in human differentiated macrophages, whereas it had no effect on CETP expression in human peripheral blood monocytes. In inflammatory mouse and human mac…

030204 cardiovascular system & hematologyMonocytesMice0302 clinical medicinepolycyclic compoundsPhospholipid Transfer ProteinsCells CulturedLiver X Receptors0303 health sciencesCell DifferentiationOrphan Nuclear ReceptorsUp-RegulationLipoproteins LDLmedicine.anatomical_structureABCG1Models Animalmonocytelipids (amino acids peptides and proteins)medicine.symptomCardiology and Cardiovascular MedicineOxidation-ReductionAgonistmedicine.medical_specialtymedicine.drug_classBlotting Westerncholesteryl ester transfer proteinMice TransgenicInflammationmacrophageBiology03 medical and health sciencesDownregulation and upregulationInternal medicineCholesterylester transfer proteinmedicineAnimalsHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyRNA MessengerLiver X receptorLiver X receptorProbability030304 developmental biologyMacrophagesMonocyteAtherosclerosisCholesterol Ester Transfer Proteinscarbohydrates (lipids)EndocrinologyGene Expression RegulationinflammationABCA1Immunologybiology.protein[SDV.AEN]Life Sciences [q-bio]/Food and NutritionArteriosclerosis, Thrombosis, and Vascular Biology
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Metabolic signatures across the full spectrum of non-alcoholic fatty liver disease.

2022

Funder: European Commission

ALTtype 2 diabetes mellitusROC receiving operator characteristicaspartate aminotransferaseHSDLDL low-density lipoproteinUHPLC ultrahigh-performance liquid chromatographyROCHCCNon-alcoholic steatohepatitisGCPCANASHGastroenterology2-HB 2-hydroxybutanoic acid; 3-HB 3-hydroxybutanoic acid; ALT alanine aminotransferase; AST aspartate aminotransferase; CE cholesterol ester; Cer ceramide; FFA free fatty acid; FLIP Fatty Liver Inhibition of Progression; Fibrosis; GC gas chromatography; HCC hepatocellular carcinoma; HSD honest significant difference; LC lipid cluster; LDL low-density lipoprotein; LM lipid and metabolite; LMC lipid metabolite and clinical variable; LPC lysophosphatidylcholine; Lipidomics; Mass spectrometry; Metabolomics; NAFL non-alcoholic fatty liver; NAFLD non-alcoholic fatty liver disease; NAS NASH activity score; NASH non-alcoholic steatohepatitis; NIDDK NASH-CRN National Institute of Digestive Diseases and Kidney NASH Clinical Research Network; NRR non-rejection rate; Non-alcoholic steatohepatitis; PC(O) ether PC; PC phosphatidylcholine; PCA principal component analysis; PE phosphatidylethanolamine; QTOFMS quadrupole-time-of-flight mass spectrometry; ROC receiving operator characteristic; SAF steatosis activity and fibrosis; SM sphingomyelin; T2DM type 2 diabetes mellitus; TG triacylglycerol; UHPLC ultrahigh-performance liquid chromatographySAFSAF steatosis activity and fibrosisLM lipid and metabolitehonest significant differenceHSD honest significant differenceTG triacylglycerolnon-rejection ratecholesterol esterPCPEGC gas chromatographyfree fatty acidFLIPNASH non-alcoholic steatohepatitisNIDDK NASH-CRN National Institute of Digestive Diseases and Kidney NASH Clinical Research NetworkBIOMARKERST2DMPE phosphatidylethanolamineLDLlipidNAFLDFFA free fatty acid2-HBMetabolomicsNAFL non-alcoholic fatty liverLMCphosphatidylcholineScience & TechnologySM sphingomyelinGastroenterology & HepatologyMass spectrometryactivitynutritional and metabolic diseasesT2DM type 2 diabetes mellitusACIDSreceiving operator characteristicdigestive system diseasesquadrupole-time-of-flight mass spectrometryLC lipid clusterlow-density lipoproteinNAS2-HB 2-hydroxybutanoic acidNAS NASH activity scoreQTOFMSether PCNRRSCORING SYSTEMprincipal component analysisgas chromatographyLC2-hydroxybutanoic acidPROGRESSIONAST aspartate aminotransferaseLMPC phosphatidylcholinePC(O)MARKERSUHPLCsteatosisTOOLImmunology and AllergyINSULIN-RESISTANCECerSMFatty Liver Inhibition of Progressionhepatocellular carcinoma2-HB 2-hydroxybutanoic acid NIDDK NASH-CRN National Institute of Digestive Diseases and Kidney NASH Clinical Research Network NRR non-rejection rate Non-alcoholic steatohepatitis PC(O) ether PC PC phosphatidylcholine PCA principal component analysis PE phosphatidylethanolamine QTOFMS quadrupole-time-of-flight mass spectrometry ROC receiving operator characteristic SAF steatosis activity and fibrosis SM T2DM type 2 diabetes mellitus TG triacylglycerol UHPLC ultrahigh-performance liquid chromatographyultrahigh-performance liquid chromatographyCELPC3-HBNAFLnon-alcoholic fatty liverTGtriacylglycerolNRR non-rejection rateLife Sciences & BiomedicineNAFLD non-alcoholic fatty liver diseaseFLIP Fatty Liver Inhibition of Progressionalanine aminotransferasemetaboliteCer ceramideCE cholesterol estersphingomyelinlysophosphatidylcholineand fibrosisALT alanine aminotransferaseInternal MedicineceramideNational Institute of Digestive Diseases and Kidney NASH Clinical Research NetworkAST3-HB 3-hydroxybutanoic acidQTOFMS quadrupole-time-of-flight mass spectrometryPCA principal component analysisLPC lysophosphatidylcholineHepatologynon-alcoholic fatty liver diseaseand clinical variablePC(O) ether PC3-hydroxybutanoic acidFibrosisNASH activity scoreNIDDK NASH-CRNlipid clusterlipid and metabolitephosphatidylethanolamineLipidomicsLMC lipid metabolite and clinical variableFFAHCC hepatocellular carcinomaJHEP reports : innovation in hepatology
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Common cholesteryl ester transfer protein gene variation related to high-density lipoprotein cholesterol is not associated with decreased coronary he…

2009

Despite the consistent association between cholesteryl ester transfer protein (CETP) gene variation and plasma HDL-C, huge controversy still rages on its association with coronary heart disease (CHD). We investigated the association between the CETP-TaqIB polymorphism, HDL-C and incident CHD in a Mediterranean population.A nested case-control study among participants of the Spanish EPIC cohort was performed. 41,440 healthy individuals (30-69 years) were followed up over a 10-year period, incident CHD cases being identified. We analyzed 557 confirmed CHD cases and 1180 healthy controls.Despite B2B2 subjects having the highest HDL-C concentrations and B1B1, the lowest (P0.001), no protective …

AdultMaleRiskmedicine.medical_specialtyAlcohol DrinkingPopulationCoronary DiseaseGastroenterologychemistry.chemical_compoundHigh-density lipoproteinInternal medicineDiabetes mellitusCholesterylester transfer proteinEpidemiologymedicineHumanseducationAgededucation.field_of_studyPolymorphism Geneticbiologybusiness.industryCholesterolMediterranean RegionIncidence (epidemiology)Cholesterol HDLGenetic VariationMiddle Agedmedicine.diseaseCholesterol Ester Transfer ProteinsEndocrinologychemistryCase-Control StudiesCohortbiology.proteinlipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicinebusinessFollow-Up StudiesAtherosclerosis
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Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and plasma lipoprotein levels in familial hypercholes…

2001

Abstract Cholesteryl ester transfer protein (CETP) facilitates the exchange of triglycerides (TG) and cholesteryl ester between lipoprotein particles. Subjects with familial hypercholesterolemia (FH) have been reported to have higher CETP activities, which could contribute to the lower high-density lipoprotein-cholesterol (HDL-C) levels and increased cardiovascular risk observed in some of these patients. Several polymorphisms have been reported in the CETP locus; the common TaqlB polymorphism is associated, in normolipidemic subjects, with decreased CETP activity and levels and with increased HDL-C levels. No data is available on the influence of this polymorphism in FH subjects. We have e…

AdultMaleSite-Specific DNA-Methyltransferase (Adenine-Specific)medicine.medical_specialtyGenotypeApolipoprotein BLipoproteinsEndocrinology Diabetes and MetabolismPopulationFamilial hypercholesterolemiaHyperlipoproteinemia Type IIchemistry.chemical_compoundEndocrinologyInternal medicineCholesterylester transfer proteinmedicineHumanseducationNational Cholesterol Education ProgramAllelesGlycoproteinseducation.field_of_studyPolymorphism Geneticbiologymedicine.diagnostic_testmedicine.diseaseCholesterol Ester Transfer ProteinsCholesterolEndocrinologychemistryCardiovascular DiseasesSpainbiology.proteinCholesteryl esterFemalelipids (amino acids peptides and proteins)Carrier ProteinsLipid profileLipoproteinMetabolism
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High Serum Cholesteryl Ester Transfer Rates and Small High-Density Lipoproteins Are Associated With Young Age in Patients With Acute Myocardial Infar…

2007

Objectives Our aim was to characterize cholesteryl ester transfer protein (CETP) activity in the early phase of acute myocardial infarction (MI). Background Cholesteryl ester transfer protein catalyzes the transfer of cholesteryl esters from high-density lipoprotein (HDL) donors to apolipoprotein B-containing lipoprotein acceptors. Methods The CETP concentration, lipid profiles, and the rate of cholesteryl ester transfer (CET) from a tracer dose of radiolabeled HDL toward endogenous lipoproteins were determined within 24 h after symptom onset. Results Among 347 patients with first MI, CETP concentration, triglycerides, and non–HDL-cholesterol increased across tertiles of the CET rate, where…

AdultMaleVery low-density lipoproteinmedicine.medical_specialtyApolipoprotein BHeart disease[SDV]Life Sciences [q-bio]Myocardial Infarction030204 cardiovascular system & hematology03 medical and health scienceschemistry.chemical_compoundSex Factors0302 clinical medicineInternal medicineCholesterylester transfer proteinmedicineHumansProspective StudiesMyocardial infarctionAged030304 developmental biologyAged 80 and over0303 health sciencesbiologyCholesterolbusiness.industryAge FactorsMiddle Agedmedicine.diseaseCholesterol Ester Transfer ProteinsEndocrinologychemistrybiology.proteinCholesteryl esterFemalelipids (amino acids peptides and proteins)Lipoproteins HDLCardiology and Cardiovascular Medicinebusiness[SDV.AEN]Life Sciences [q-bio]/Food and NutritionLipoprotein
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Association of TaqIB polymorphism in the cholesteryl ester transfer protein gene with plasma lipid levels in a healthy Spanish population.

2000

Genetic variants at the cholesteryl ester transfer protein (CETP) locus have been associated with CETP activity and mass, as well as plasma high density lipoprotein cholesterol (HDL-C) and apolipoprotein A-I levels. We have examined allele frequencies and lipid associations for the common CETP TaqIB polymorphism in a sample of 514 healthy subjects (231 men, mean age 37.4 years, and 283 women, mean age 35.7 years) residing in Valencia (Spain). The frequency of the less common TaqIB2 allele (0.351; 95% CI: 0.322-0. 380) was significantly lower than those reported for Northern European populations. Consistent with previous studies, we found a significant association of the TaqIB polymorphism w…

AdultMalemedicine.medical_specialtyApolipoprotein BAdolescentAlcohol DrinkingGenotypeCoronary DiseaseBody Mass Indexchemistry.chemical_compoundHigh-density lipoproteinGene FrequencyInternal medicineGenotypeCholesterylester transfer proteinmedicineHumansTaq PolymeraseAlleleAllele frequencyAllelesAgedGlycoproteinsGeneticsbiologyCholesterolCholesterol HDLSmokingGenetic VariationMiddle AgedLipidsCholesterol Ester Transfer ProteinsEndocrinologyApolipoproteinsCross-Sectional StudieschemistrySpainMultivariate Analysisbiology.proteinlipids (amino acids peptides and proteins)FemaleCardiology and Cardiovascular MedicineCarrier ProteinsBody mass indexAtherosclerosis
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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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