Search results for "B-CONTAINING LIPOPROTEINS"

showing 3 items of 3 documents

Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strat…

2021

Abstract Recent advances in human genetics, together with a large body of epidemiologic, preclinical, and clinical trial results, provide strong support for a causal association between triglycerides (TG), TG-rich lipoproteins (TRL), and TRL remnants, and increased risk of myocardial infarction, ischaemic stroke, and aortic valve stenosis. These data also indicate that TRL and their remnants may contribute significantly to residual cardiovascular risk in patients on optimized low-density lipoprotein (LDL)-lowering therapy. This statement critically appraises current understanding of the structure, function, and metabolism of TRL, and their pathophysiological role in atherosclerotic cardiova…

CHOLESTERYL ESTER TRANSFERTO-MODERATE HYPERTRIGLYCERIDEMIALipoprotein remnants030204 cardiovascular system & hematologyBioinformaticsResidual riskBrain Ischemiachemistry.chemical_compoundVoeding Metabolisme en Genomica0302 clinical medicineIschaemic strokeAcademicSubjects/MED00200Myocardial infarctionLOW-GRADE INFLAMMATIONALL-CAUSE MORTALITY[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism0303 health sciencesAtherosclerotic cardiovascular diseasedigestive oral and skin physiology[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismCardiovascular diseaseMetabolism and Genomics3. Good healthStrokeLOW-DENSITY LIPOPROTEINSCardiovascular DiseasesMetabolisme en GenomicaCORONARY-ARTERY-DISEASENutrition Metabolism and GenomicsCardiology and Cardiovascular MedicineB-CONTAINING LIPOPROTEINSLipoproteinsTriglyceride-rich lipoproteinsHEART-DISEASE03 medical and health sciencesSpecial ArticleVoedingmedicineHumansHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIATriglycerides030304 developmental biologyNutritionVLAGTriglyceridebusiness.industryAPO-Bmedicine.diseaseAtherosclerosisResidual riskIncreased riskchemistry3121 General medicine internal medicine and other clinical medicineEuropean atherosclerosis societybusinessLipoprotein
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Genetics of familial hypobetalipoproteinemia

2007

Primary hypobetalipoproteinemias include three monogenic disorders: the relatively frequent codominant familial hypobetalipoproteinemia (FHBL), the rare recessive conditions abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD). Approximately 50% of FHBL patients are carriers of mutations in the APOB gene, mostly causing the formation of truncated forms of ApoB. In some kindred, FHBL is linked to a locus on chromosome 3 (3p21), but the candidate gene is still unknown. Recently, a FHBL-like phenotype was observed in carriers of mutations of the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene causing loss-of-function of the encoded protein, a proprotein convertase tha…

hypobetalipoproteinemia; abetalipoproteinemia; Chylomicron retention diaseaseSettore MED/09 - Medicina InternaApolipoprotein BAssembly and secretion of ApoB-containing lipoproteinsApoB-containing lipoproteinsBiochemistryMicrosomal triglyceride transfer proteinabetalipoproteinemiaChylomicron retention diaseasemedicineFamilial hypobetalipoproteinemiaGeneticsbiologyPCSK9AbetalipoproteinemiahypobetalipoproteinemiaChylomicron retention diseasemedicine.diseaseProprotein convertaseAbetalipoproteinemiaLDL receptorbiology.proteinlipids (amino acids peptides and proteins)HypobetalipoproteinemiaAbetalipoproteinemia; ApoB-containing lipoproteins; Assembly and secretion of ApoB-containing lipoproteins; Chylomicron retention disease; Familial hypobetalipoproteinemiaChylomicron retention disease
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Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

medicine.medical_specialtyHeterozygoteSettore MED/09 - Medicina InternaDuodenumSpecialties of internal medicineInternal medicineRetinitis pigmentosamedicineHumansgeneticsFamily HealthMTP gene mutations.ABLHepatologymedicine.diagnostic_testApoB-containing lipoproteins.business.industryAbetalipoproteinemiaInfantAbetalipoproteinemia.Heterozygote advantageGeneral Medicinemedicine.diseaseLipidsAbetalipoproteinemiaFat malabsorptionHypocholesterolemiaEndocrinologyPhenotypeRC581-951Failure to thriveFemaleHypocholesterolemia.medicine.symptomLipid profilebusinessCarrier Proteins
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