• It is well known that alterations in thyroid function result in changes in the composition and transport of lipoproteins 1-3 . (hormones.gr)
  • The apolipoprotein (apo) content of chylomicrons and very low density lipoproteins was examined by isoelectric focusing. (utmb.edu)
  • Apolipoproteins are proteins that have binding affinity for lipids to form packages called lipoproteins. (dnaaccesslab.com)
  • The APOE gene encodes the Apolipoprotein E protein, which is a major component of chylomicrons and VLDLs (Very Low-Density Lipoproteins). (dnaaccesslab.com)
  • Hyperlipoproteinemias generally cause elevations in the affected lipids/lipoproteins and hypolipoproteinemia s generally cause reductions in the affected lipids/lipoproteins. (wikidoc.org)
  • Hyperlipoproteinemia type III is one disease characterized by elevated triglycerides and beta-very low-density lipoproteins. (genebase.com)
  • Alterations in lipoproteins result either from genetic mutations that yield defective apolipoproteins (primary hyperlipoproteinemia) or from some other underlying systemic disorder, such as diabetes mellitus , hypothyroidism , or nephrotic syndrome (secondary hyperlipoproteinemia). (medscape.com)
  • Diabetic dyslipidemia is usually constituted by three concomitant plasma lipid alterations: elevation in the levels of triglycerides, a reduction in high-density lipoprotein (HDL) concentrations, and the predominance of atherogenic small dense low-density lipoproteins (LDL) [Krauss 2004]. (diabetologie-online.de)
  • Corbo RM, Scacchi R. Apolipoprotein E (APOE) allele distribution in the world. (medscape.com)
  • The gene, APOE, is mapped to chromosome 19 in a cluster with apolipoprotein C1 (APOC1) and the apolipoprotein C2 (APOC2). (wikipedia.org)
  • The APOE gene consists of four exons and three introns, totaling 3597 base pairs. (wikipedia.org)
  • Indeed, the apolipoprotein ε4 isoform is more protective against cognitive decline than other isoforms in some cases, so caution is advised before making determinant statements about the influence of APOE polymorphisms on cognition, development of Alzheimer's disease, cardiovascular disease, telomere shortening, etc. (wikipedia.org)
  • The apolipoproteinE (APOE) gene provides instructions for the production of the apolipoprotein E (apoE) protein. (randox.com)
  • Apolipoprotein E (apoE) is a multifunctional glycoprotein with central roles in lipid metabolism, neurobiology, and neurodegenerative diseases. (randox.com)
  • ApoE has three major isoforms (apoE2, apoE3, and apoE4) all of which have different effects on lipid and neuronal homeostasis (fig 1). (randox.com)
  • Other dominant and recessive mutations in apoE that affect residues in or around the receptor binding region also causes type III hyperlipoproteinemia 3 . (randox.com)
  • Earlier studies were associated with Apolipoprotein E ( ApoE ) in variable diseases. (edu.pl)
  • We have investigated the ability of apoE (apolipoprotein E) to participate in the biogenesis of HDL (high-density lipoprotein) particles in vivo using adenovirus-mediated gene transfer in apoA-I-/- (apolipoprotein A-I) or ABCA1-/- (ATP-binding cassette A1) mice. (omicsdi.org)
  • Formation of HDL in vivo was assessed by various methods following gene transfer in apolipoprotein A-I(-/-) × apoE(-/-) mice. (omicsdi.org)
  • Genetic variations in the APOE gene can influence an individual's predisposition for developing high LDL cholesterol, Type III Hyperlipoproteinemia type III and cardiovascular disease. (dnaaccesslab.com)
  • The APOE e3 allele is the most commonly observed allele, and is not associated with elevated LDL cholesterol or hyperlipoproteinemia type III. (dnaaccesslab.com)
  • It also binds with the LDL receptor (apo B/E). Defects in ApoE are a cause of hyperlipoproteinemia type III. (caslab.com)
  • Like other apolipoproteins, APOE is involved in lipid binding, and it is the predominant cholesterol transporter in the brain. (j-alz.com)
  • It encodes Apolipoprotein E (ApoE), a protein involved in the production, delivery, and utilization of cholesterol in the body. (genebase.com)
  • Distribution of apolipoprotein(a) in the plasma from patients with lipoprotein lipase deficiency and with type III hyperlipoproteinemia. (jci.org)
  • We have determined the phenotype, concentration, and distribution of apo(a) in plasma from patients with lipoprotein lipase (LPL) deficiency (type I hyperlipoproteinemia, n = 14), in apo E 2/2 homozygotes with type III hyperlipoproteinemia (n = 12) and in controls (n = 16). (jci.org)
  • Total, hepatic, and lipoprotein lipase (LPL) were measured by radioassay, prior to and at the end of the three month study. (utmb.edu)
  • Apolipoprotein C-II (apoC-II) is a necessary cofactor for the activation of lipoprotein lipase (LPL), the enzyme that hydrolyzes triglycerides in plasma and transfers the fatty acids to tissues.The APOC2 cDNA sequence encodes a deduced 79-amino acid protein. (abebio.cn)
  • Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. (nih.gov)
  • While modest decreases in total and low density lipoprotein (LDL) cholesterol may be observed with gemfibrozil therapy, treatment of patients with elevated triglycerides due to Type IV hyperlipoproteinemia often results in a rise in LDL-cholesterol. (nih.gov)
  • Fenofibrate is used to reduce low-density lipoprotein (LDL)-cholesterol, total cholesterol, triglycerides and apolipoprotein B and increase high-density lipoprotein (HDL)-cholesterol. (xalmeds.com)
  • Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). (medscape.com)
  • In general, overt and subclinical hypothyroidism is associated with hypercholesterolemia mainly due to elevation of low density lipoprotein (LDL) cholesterol levels, whereas high density lipoprotein (HDL) cholesterol concentration is usually normal or even elevated 3-5 . (hormones.gr)
  • Specifically, the thyroid hormone stimulates the hepatic de novo cholesterol synthesis by inducing the 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase that catalyzes the conversion of HMG-CoA to mevalonate, the first step in the biosynthesis of cholesterol 7 . (hormones.gr)
  • Levels of total and LDL cholesterol tend to increase as the thyroid function declines 3 . (hormones.gr)
  • As apoE2 binds defectively to LDL receptors, apoE2 homozygosity can precipitate type III hyperlipoproteinemia, however, only occurs when another condition, including: diabetes, oestrogen deficiency, hypothyroidism, or obesity, leads to the overproduction of VLDL or fewer LDL receptors, overwhelming the limited ability of apoE2 to mediate the clearance of triglyceride-rich and cholesterol-rich β-VLDL. (randox.com)
  • Molgaard J, von Schenck H, Olsson A. Alfalfa seeds lower low density lipoprotein cholesterol and apolipoprotein B concentrations in patients with type II hyperlipoproteinemia. (headworths.blog)
  • Cholesterol is bound to apolipoprotein B-100 as LDL in interstitial fluid. (medscape.com)
  • After two weeks, taking 600 mg of Pantesin a day, the subjects averaged a reduction of 3% in total cholesterol, 4% in LDL (bad) cholesterol, and 5% in Apolipoprotein B (main component of LDL). (life-enthusiast.com)
  • Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. (abebio.cn)
  • AROAPOC-3 is under development for the treatment of hypertriglyceridemia, mixed dyslipidemia and familial Chylomicronemia. (pharmaceutical-technology.com)
  • Intervention1: Pegozafermin: In Double blind randomized period, patients with diagnosis of Severe Hypertriglyceridemia will be randomized 3 3 2, pegozafermin 30 mg, pegozafermin 20 mg, placebo, n equal to 135 in each pegozafermin arm and n equal to 90 in the placebo arm. (who.int)
  • Control Intervention1: Placebo (Tris buffer solution (containing Arginine hydrochloride, and polysorbate 80)): In Double blind randomized period, patients with diagnosis of Severe Hypertriglyceridemia, subjects will be randomized 3 3 2, pegozafermin 30 mg, pegozafermin 20 mg, placebo, n equal to 135 in each pegozafermin arm and n equal to 90 in the placebo arm. (who.int)
  • Thirty-three patients with chronic renal failure (CRF) and uremic hypertriglyceridemia (HTG) on hemodialysis were compared with 33 type IV hyperlipoproteinemic patients matched for age, body mass index (BMI), and triglyceride (TG) levels. (ox.ac.uk)
  • The two forms of hypertriglyceridemia showed different apolipoprotein profiles: apo AI, AII, and B levels and apo CII:CIII and TG:apo CIII ratios of CRF-HTG patients were lower and apo CIII levels were higher than the levels of type IV subjects. (ox.ac.uk)
  • Considering apo(a) type, the plasma concentration of apo(a) was normal in type III patients but significantly reduced in LPL deficiency. (jci.org)
  • ApoE4 is the major genetic risk factor, or causative gene, for Alzheimer's disease (AD) and other neurological disorders, including poor clinical outcomes following traumatic brain injury, stroke, frontotemporal dementia, Down syndrome, certain patients with Parkinson's disease, and Lewy body disease 3 . (randox.com)
  • Apolipoprotein E gene allele 4 (APOE4) is a major genetic risk factor for late-onset Alzheimer's disease (AD). (j-alz.com)
  • and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. (nih.gov)
  • 22 The majority had a common mutant allele, a 3-base pair deletion in exon 4 of the LDLR gene 23 called FH-Piscataway. (acc.org)
  • Gemfibrozil increases levels of high density lipoprotein (HDL) subfractions HDL 2 and HDL 3 , as well as apolipoproteins AI and AII. (nih.gov)
  • The e3 allele is the most of the three and may be considered an ancestral allele. (randox.com)
  • The e4 allele is more common in those of Northern European ancestry and lower in those of Asian ancestry 3 . (randox.com)
  • However, in the presence of other environmental or genetic factors, individuals with this allele are prone to developing Type III Hyperlipoproteinemia. (dnaaccesslab.com)
  • Individuals carrying one copy of the APOE4 allele are known to be at 3-4-fold increased risk of developing AD compared with those carrying the more common APOE3 allele. (j-alz.com)
  • Secondly, Fredrickson's classification of hyperlipoproteinemia s took into consideration the elevation in chylomicrons , LDL , VLDL but did not include abnormalities in HDL levels. (wikidoc.org)
  • Apo-E belongs to a family of fat-binding proteins called apolipoproteins. (wikipedia.org)
  • Evidences have suggested that proteins primarily related to plasma lipoprotein transport, such as apolipoprotein (apo) CIII and E, may significantly affect the process of body fat accumulation. (biomedcentral.com)
  • 4. Hopkins PN, Brinton EA, Nanjee MN: Hyperlipoproteinemia type 3: the forgotten phenotype. (testcatalog.org)
  • 3 Building on this work in 1973, Goldstein and Brown characterized the low-density lipoprotein receptor (LDLR) and related the phenotype of FH to defects in the LDLR. (acc.org)
  • Familial chylomicronemia syndrome (FCS) or type 1 hyperlipoproteinemia in the Fredrickson-Levy classification, comprises monogenetic disorders leading to significant fasting chylomicronemia. (diabetologie-online.de)
  • 6 There are also rare forms of FH that result from mutations in genes for apolipoprotein B-100 (ApoB), proprotein convertase subtilisin/kexin type 9 (PCSK9), 8 and the low-density lipoprotein receptor adaptor protein 1 (LDLRAP1), which causes a rare form of autosomal recessive FH. (acc.org)
  • APOE2 has a decreased affinity to the receptor and decreases the risk of late-onset AD compared with APOE3 through both amyloid-β (Aβ)-dependent and independent mechanisms [3]. (j-alz.com)
  • The plasma lipoprotein composition of six patients with mixed hyperlipoproteinemia (MH) was investigated in a study of influence of apoprotein content and lipase activities on mechanisms of plasma triglyceride (TG) production and removal. (utmb.edu)
  • Mahley RW, Rall SC Jr. Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal metabolism. (medscape.com)
  • Mahley RW, Huang Y, Rall SC Jr. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). (medscape.com)
  • Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects. (medscape.com)
  • However, APOE2 carriers could develop type III hyperlipoproteinemia and exhibit increased risk of cerebrovascular diseases and neurological disorders. (j-alz.com)
  • Classifying the hyperlipoproteinemias into phenotypes places disorders that affect plasma lipid and lipoprotein concentrations into convenient groups for evaluation and treatment. (testcatalog.org)
  • TG levels were correlated with hepatic lipase only in apo E4/3 patients (r=0.99). (utmb.edu)
  • Serum apolipoprotein profile of hypertriglyceridemic patients with chronic renal failure on hemodialysis: a comparison with type IV hyperlipoproteinemic patients. (ox.ac.uk)
  • The paper ends by commenting on some data from the Area of Toledo, La Serena and Mérida studies, where members of our group have found negative correlation between the Apgar test score, serum glucose and Apolipoprotein B levels at birth. (ucm.es)
  • These parameters are also in relation with other biochemical abnormalities: decreased leptin and adiponectin [3] and high insulin resistance [4]. (symptoma.com)
  • and the ratio of LPL activator, C-II 1 , to inhibitor, C-III 2 , was correlated negatively with TG level (r=-0.62) in apo E4/3 patients. (utmb.edu)
  • apo C-total was correlated with TG only in the apo E4/3 patients. (utmb.edu)
  • 6. Gonzales KM, Donato LJ, Shah P, Simha V: Measurement of apolipoprotein B levels helps in the identification of patients at risk for hypertriglyceridemic pancreatitis. (testcatalog.org)
  • These phenotypes are based on the electrophoretic patterns of lipoprotein level elevations that occur in patients with hyperlipoproteinemia. (medscape.com)
  • It is noteworthy that only 276 (43%) patients met the three set of criteria. (unican.es)
  • Bastida S, Perea S, Sánchez-Muniz FJ, Ureta A. Estudio Toledo: riesgo cardiovascular en neonatos y en la población infantil. (ucm.es)
  • Association of apolipoprotein E genetic variation in Alzheimer's disease in Indian population: a meta-analysis. (edu.pl)
  • 19 Three mutations in the LDLR account for the majority of cases of FH. (acc.org)
  • A point mutation in the 3' end of exon 4 accounts for 65% of mutations and is called FH Afrikaner-1. (acc.org)
  • There are also two other mutations, one in exon 9--FH Afrikaner-2, and exon 4--FH Afrikaner-3, which in total account for 90% of cases. (acc.org)
  • 20 All three of these mutations have been detected in lower frequencies in the Netherlands, which is consistent with the founder effect. (acc.org)
  • Apo E phenotypes were: E2/2 (1), E3/3 (2), and E4/3 (3). (utmb.edu)
  • Fatty liver hepatitis and type 5 hyperlipoproteinemia in juvenile diabetes mellitus. (nih.gov)
  • A 28-year-old man with poorly controlled juvenile-onset diabetes mellitus presented with jaundice and type 5 hyperlipoproteinemia . (nih.gov)
  • 2. Uncontrolled or newly diagnosed (=3 months since diagnosis) Type 2 diabetes mellitus as determined by the Principal Investigator. (who.int)
  • Lipoprotein(a) consists of a low-density lipoprotein containing apolipoprotein (apo) B-100 and of the genetically polymorphic apo(a). (jci.org)
  • Apolipoprotein C2 is secreted in plasma where it is a component of very low density lipoprotein. (abebio.cn)
  • The three major human alleles (E4, E3, E2) arose after the primate-human split around 7.5 million years ago. (wikipedia.org)
  • The three most common alleles are known as e2 , e3 and e4 . (genebase.com)
  • Pathway of biogenesis of apolipoprotein E-containing HDL in vivo with the participation of ABCA1 and LCAT. (omicsdi.org)
  • Apolipoprotein E (Apo-E) is a protein involved in the metabolism of fats in the body of mammals. (wikipedia.org)
  • 9.5% of the participants of the Colorado prevalence study had elevated levels of thyroid stimulating hormone 3 . (hormones.gr)
  • The enrichment of VLDL with apoE4 accelerates their clearance from the plasma by receptor-mediated endocytosis in the liver and consequently, LDL receptors are downregulated, and LDL levels rise 3 . (randox.com)
  • According to Globaldata, it is involved in 8 clinical trials, of which 1 was completed, 4 are ongoing, and 3 are planned. (pharmaceutical-technology.com)