Search results for "Tangier Disease"

showing 4 items of 4 documents

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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Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic dono…

1998

Plasma of patients with Tangier disease (TD) is devoid of alpha-LpA-I (apolipoprotein A-I-containing lipoprotein), which in normolipidemic plasma constitutes the majority of high density lipoprotein (HDL). The residual amounts of apolipoprotein A-I (apo A-I) in TD plasma have electrophoretic prebeta1-LpA-I mobility. We have previously demonstrated that TD plasma does not convert prebeta1-LpA-I into alpha-LpA-I. In this study we found that plasmas of normolipidemic controls, apo A-I-deficient patients and patients with fish-eye disease, but not plasmas of six TD patients, convert biotinylated lipid-free apo A-I into alpha-LpA-I. Supplementation of plasma with free oleic acid or fatty acid fr…

AdultMalemedicine.medical_specialtyApolipoprotein BLipoproteinsBlood Donorschemistry.chemical_compoundTangier diseaseHigh-density lipoproteinReference ValuesPhospholipid transfer proteinInternal medicinemedicineHumansPhospholipidsTangier DiseaseAgedApolipoprotein A-IbiologyChemistryCholesterolVesicleAlbuminMiddle Agedmedicine.diseaseEndocrinologybiology.proteinFemalelipids (amino acids peptides and proteins)Lipoproteins HDLCardiology and Cardiovascular MedicineLipoproteinAtherosclerosis
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Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I

1998

Plasmas of patients with Tangier disease (TD) lack lipid-rich α-HDL which, in normal plasma, constitutes the majority of high density lipoprotein (HDL). Residual amounts of apolipoprotein (apo)A-I in TD plasma occur as lipid-poor or even lipid-free preβ-HDL. By contrast to normal plasma, TD plasma does not convert preβ-HDL into α-HDL. Moreover, fibroblasts of TD patients were found to be defective in secreting cholesterol or phospholipids in the presence of lipid-free apoA-I. We have therefore hypothesized that both defective conversion of preβ-HDL into α-HDL and defective lipid efflux from TD cells onto lipid-free apoA-I result from a disturbance in phospholipid transfer occurring in both …

AdultMaletransferring phospholipidsPhospholipidTangier diseasePhosphatidic AcidsQD415-436PhosphatidylinositolsBiochemistrychemistry.chemical_compoundEndocrinologyTangier diseasePhosphatidylcholinePhospholipid transfer proteinExtracellularmedicineHumansCells CulturedPhosphatidylethanolamineApolipoprotein A-ICholesterolPhosphatidylethanolaminesReverse cholesterol transportnutritional and metabolic diseasesBiological TransportCell BiologyFibroblastsmedicine.diseaseMolecular biologyfamilial HDL deficiencyreverse cholesterol transportLipoproteins LDLphospholipid transfer proteinsprebeta-HDLTangier disease; transferring phospholipidschemistryPhosphatidylcholinesFemalelipids (amino acids peptides and proteins)cholesterol efflux
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ABC A-subfamily transporters: Structure, function and disease

2006

AbstractABC transporters constitute a family of evolutionarily highly conserved multispan proteins that mediate the translocation of defined substrates across membrane barriers. Evidence has accumulated during the past years to suggest that a subgroup of 12 structurally related “full-size” transporters, referred to as ABC A-subfamily transporters, mediates the transport of a variety of physiologic lipid compounds. The emerging importance of ABC A-transporters in human disease is reflected by the fact that as yet four members of this protein family (ABCA1, ABCA3, ABCR/ABCA4, ABCA12) have been causatively linked to completely unrelated groups of monogenetic disorders including familial high-d…

Candidate geneSubfamilyProtein familyATP-binding cassette transporterDiseaseABCA3RetinaEvolution MolecularSurfactantAnimalsHumansDiseaseABCA12Molecular BiologyTangier DiseaseGeneticsbiologyIchthyosisLipidAtherosclerosisABCA1biology.proteinMolecular MedicineATP-Binding Cassette TransportersDisease SusceptibilityABC transporterBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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