Search results for "Hypoalphalipoproteinemia"

showing 3 items of 3 documents

Normal intestinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (ApoB) mRNA levels, and ApoB-48 synthesis in a hypobetalipoprot…

1997

Abstract The purpose of this study was to characterize intestinal apolipoprotein B (apoB) metabolism in subjects with familial hypobetalipoproteinemia (FHBL), where segregation analysis supports linkage to the apoB gene but no apoB truncations are present. We investigated cholesterol and fat absorption, intestinal apoB mRNA synthesis and editing, as well as apoB-48 synthesis. Plasma triglycerides (TG) and retinyl palmitate in the chylomicron fractions were analyzed after 12 hours of fasting and then repeatedly for 14 hours after ingestion of a vitamin A—containing high-fat meal. Cholesterol absorption was assessed using a dual stable-isotope method. Mean peak times and concentrations and ar…

AdultMaleVitaminmedicine.medical_specialtyApolipoprotein BEndocrinology Diabetes and Metabolismdigestive systemAbsorptionCholesterol DietaryHypobetalipoproteinemiasEatingchemistry.chemical_compoundEndocrinologyInternal medicineRetinyl palmitatemedicineHumansRNA MessengerIntestinal MucosaHypoalphalipoproteinemiaAgedApolipoproteins BMethioninebiologyCholesterolnutritional and metabolic diseasesNuclease protection assayMiddle Agedmedicine.diseaseDietary FatsLipidsEndocrinologychemistrybiology.proteinFemalelipids (amino acids peptides and proteins)RNA EditingApolipoprotein B-48ChylomicronMetabolism
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Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders

2004

Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…

AdultMalemedicine.medical_specialtyHeterozygoteSettore MED/09 - Medicina InternaApolipoprotein BAdolescentPremature coronary artery diseaseTangier diseaseCoronary DiseaseBiologyGene mutationmedicine.disease_causeCompound heterozygosityTangier diseaseInternal medicineGenotypeABCA1 genemedicineHumansChildHypoalphalipoproteinemiaSelection BiasAgedApolipoproteins BGeneticsMutationFamilial defective Apo B (FDB)Apolipoprotein A-ICholesterol HDLnutritional and metabolic diseasesMiddle Agedmedicine.diseaseLipoprotein lipaseTangier disease; Familial HDL deficiency; ABCA1 gene; Familial defective Apo B (FDB); Lipoprotein lipase; Premature coronary artery diseaseEndocrinologyChild PreschoolMutationbiology.proteinlipids (amino acids peptides and proteins)Allelic heterogeneityATP-Binding Cassette TransportersFemaleCardiology and Cardiovascular MedicineFamilial HDL deficiencyATP Binding Cassette Transporter 1
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Enhanced lipid peroxidation and platelet activation as potential contributors to increased cardiovascular risk in the low-HDL phenotype

2013

Background Low high‐density lipoprotein ( HDL ) levels are major predictors of cardiovascular ( CV ) events, even in patients on statin treatment with low‐density lipoprotein ( LDL ) at target. In animal models HDL s protect LDL from oxidation and blunt platelet activation. Our study aimed to examine whether HDL levels are related to in vivo oxidative stress and platelet activation, as determinants of atherothrombosis. Methods and Results Urinary 8‐iso‐PGF 2α and 11‐dehydro‐TXB 2 , in vivo markers of oxidative stress and platelet activation, respectively, were measured in 65 coronary heart disease (CHD) normocholesterolemic patients with HDL ≤35 mg/ dL , and in 47 CHD patients with HDL &gt…

MaleSettore MED/09 - Medicina InternaCoronary DiseaseDinoprostmedicine.disease_causeLipid peroxidationchemistry.chemical_compoundFenofibrateHDL cholesterolRisk FactorsCoronary Heart Diseaseoxidative stressMyocardial infarctionOriginal ResearchHypolipidemic AgentsplateletHypoalphalipoproteinemiasFenofibrateMiddle AgedAged; Arachidonic Acids; Case-Control Studies; Cholesterol HDL; Coronary Disease; Cross-Sectional Studies; Dinoprost; Exercise; Exercise Therapy; Female; Fenofibrate; Humans; Hypoalphalipoproteinemias; Hypolipidemic Agents; Lipid Peroxidation; Male; Middle Aged; Oxidative Stress; Phenotype; Platelet Activation; Risk Factors; Sedentary Lifestyle; Thromboxane B2; Cardiology and Cardiovascular MedicineExercise TherapyCholesterolPhenotypeSedentary LifestyleFemalelipids (amino acids peptides and proteins)exercise HDL cholesterol oxidative stress plateletCardiology and Cardiovascular Medicinemedicine.drugmedicine.medical_specialtyHDLArachidonic AcidsDiabetes mellitusInternal medicinemedicineHumansPlatelet activationExerciseAgedCreatininebusiness.industryCholesterol HDLCase-control studyPlatelet Activationmedicine.diseaseThromboxane B2Cross-Sectional StudiesEndocrinologychemistryCase-Control StudiesLipid PeroxidationSedentary BehaviorbusinessOxidative stressLipoproteinEuropean Heart Journal
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