A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I .
An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.
A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing.
A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits.
Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation.
'Blood Protein Disorders' refer to conditions characterized by an abnormal amount, structure, or function of proteins present in the blood, including immunoglobulins, coagulation factors, complement components, and transport proteins, which can lead to various clinical manifestations such as immune dysfunction, bleeding disorders, or metabolic imbalances.
One of three major isoforms of apolipoprotein E. In humans, Apo E2 differs from APOLIPOPROTEIN E3 at one residue 158 where arginine is replaced by cysteine (R158--C). In contrast to Apo E3, Apo E2 displays extremely low binding affinity for LDL receptors (RECEPTORS, LDL) which mediate the internalization and catabolism of lipoprotein particles in liver cells. ApoE2 allelic homozygosity is associated with HYPERLIPOPROTEINEMIA TYPE III.
A class of lipoproteins of very light (0.93-1.006 g/ml) large size (30-80 nm) particles with a core composed mainly of TRIGLYCERIDES and a surface monolayer of PHOSPHOLIPIDS and CHOLESTEROL into which are imbedded the apolipoproteins B, E, and C. VLDL facilitates the transport of endogenously made triglycerides to extrahepatic tissues. As triglycerides and Apo C are removed, VLDL is converted to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LOW-DENSITY LIPOPROTEINS from which cholesterol is delivered to the extrahepatic tissues.
Conditions with excess LIPIDS in the blood.
A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.
A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.
Triglycerides are the most common type of fat in the body, stored in fat cells and used as energy; they are measured in blood tests to assess heart disease risk, with high levels often resulting from dietary habits, obesity, physical inactivity, smoking, and alcohol consumption.
Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
A 34-kDa glycosylated protein. A major and most common isoform of apolipoprotein E. Therefore, it is also known as apolipoprotein E (ApoE). In human, Apo E3 is a 299-amino acid protein with a cysteine at the 112 and an arginine at the 158 position. It is involved with the transport of TRIGLYCERIDES; PHOSPHOLIPIDS; CHOLESTEROL; and CHOLESTERYL ESTERS in and out of the cells.
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. The enzyme hydrolyzes triacylglycerols in chylomicrons, very-low-density lipoproteins, low-density lipoproteins, and diacylglycerols. It occurs on capillary endothelial surfaces, especially in mammary, muscle, and adipose tissue. Genetic deficiency of the enzyme causes familial hyperlipoproteinemia Type I. (Dorland, 27th ed) EC 3.1.1.34.
Protein components on the surface of LIPOPROTEINS. They form a layer surrounding the hydrophobic lipid core. There are several classes of apolipoproteins with each playing a different role in lipid transport and LIPID METABOLISM. These proteins are synthesized mainly in the LIVER and the INTESTINES.
A class of lipoproteins of small size (18-25 nm) and light (1.019-1.063 g/ml) particles with a core composed mainly of CHOLESTEROL ESTERS and smaller amounts of TRIGLYCERIDES. The surface monolayer consists mostly of PHOSPHOLIPIDS, a single copy of APOLIPOPROTEIN B-100, and free cholesterol molecules. The main LDL function is to transport cholesterol and cholesterol esters to extrahepatic tissues.
A class of lipoproteins that carry dietary CHOLESTEROL and TRIGLYCERIDES from the SMALL INTESTINE to the tissues. Their density (0.93-1.006 g/ml) is the same as that of VERY-LOW-DENSITY LIPOPROTEINS.
Electrophoresis applied to BLOOD PROTEINS.
A group of apolipoproteins that can readily exchange among the various classes of lipoproteins (HDL; VLDL; CHYLOMICRONS). After lipolysis of TRIGLYCERIDES on VLDL and chylomicrons, Apo-C proteins are normally transferred to HDL. The subtypes can modulate remnant binding to receptors, LECITHIN CHOLESTEROL ACYLTRANSFERASE, or LIPOPROTEIN LIPASE.
Cholesterol which is contained in or bound to very low density lipoproteins (VLDL). High circulating levels of VLDL cholesterol are found in HYPERLIPOPROTEINEMIA TYPE IIB. The cholesterol on the VLDL is eventually delivered by LOW-DENSITY LIPOPROTEINS to the tissues after the catabolism of VLDL to INTERMEDIATE-DENSITY LIPOPROTEINS, then to LDL.
Receptors on the plasma membrane of nonhepatic cells that specifically bind LDL. The receptors are localized in specialized regions called coated pits. Hypercholesteremia is caused by an allelic genetic defect of three types: 1, receptors do not bind to LDL; 2, there is reduced binding of LDL; and 3, there is normal binding but no internalization of LDL. In consequence, entry of cholesterol esters into the cell is impaired and the intracellular feedback by cholesterol on 3-hydroxy-3-methylglutaryl CoA reductase is lacking.
A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS. It contains a cofactor for LIPOPROTEIN LIPASE and activates several triacylglycerol lipases. The association of Apo C-II with plasma CHYLOMICRONS; VLDL, and HIGH-DENSITY LIPOPROTEINS is reversible and changes rapidly as a function of triglyceride metabolism. Clinically, Apo C-II deficiency is similar to lipoprotein lipase deficiency (HYPERLIPOPROTEINEMIA TYPE I) and is therefore called hyperlipoproteinemia type IB.
Electrophoresis in which paper is used as the diffusion medium. This technique is confined almost entirely to separations of small molecules such as amino acids, peptides, and nucleotides, and relatively high voltages are nearly always used.
A lipid-regulating agent that lowers elevated serum lipids primarily by decreasing serum triglycerides with a variable reduction in total cholesterol.
The 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholanic acid family of bile acids in man, usually conjugated with glycine or taurine. They act as detergents to solubilize fats for intestinal absorption, are reabsorbed by the small intestine, and are used as cholagogues and choleretics.
A bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones.
A condition of elevated levels of TRIGLYCERIDES in the blood.
A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.
Centrifugation with a centrifuge that develops centrifugal fields of more than 100,000 times gravity. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)
A highly acidic mucopolysaccharide formed of equal parts of sulfated D-glucosamine and D-glucuronic acid with sulfaminic bridges. The molecular weight ranges from six to twenty thousand. Heparin occurs in and is obtained from liver, lung, mast cells, etc., of vertebrates. Its function is unknown, but it is used to prevent blood clotting in vivo and vitro, in the form of many different salts.
A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).
Cholesterol present in food, especially in animal products.
An enzyme of the hydrolase class that catalyzes the reaction of triacylglycerol and water to yield diacylglycerol and a fatty acid anion. It is produced by glands on the tongue and by the pancreas and initiates the digestion of dietary fats. (From Dorland, 27th ed) EC 3.1.1.3.
Electrophoresis in which agar or agarose gel is used as the diffusion medium.
Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.
A fibrillar collagen found predominantly in CARTILAGE and vitreous humor. It consists of three identical alpha1(II) chains.
An individual in which both alleles at a given locus are identical.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current.
Major structural proteins of triacylglycerol-rich LIPOPROTEINS. There are two forms, apolipoprotein B-100 and apolipoprotein B-48, both derived from a single gene. ApoB-100 expressed in the liver is found in low-density lipoproteins (LIPOPROTEINS, LDL; LIPOPROTEINS, VLDL). ApoB-48 expressed in the intestine is found in CHYLOMICRONS. They are important in the biosynthesis, transport, and metabolism of triacylglycerol-rich lipoproteins. Plasma Apo-B levels are high in atherosclerotic patients but non-detectable in ABETALIPOPROTEINEMIA.
The protein components of a number of complexes, such as enzymes (APOENZYMES), ferritin (APOFERRITINS), or lipoproteins (APOLIPOPROTEINS).
A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.
Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries.
Structural proteins of the alpha-lipoproteins (HIGH DENSITY LIPOPROTEINS), including APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II. They can modulate the activity of LECITHIN CHOLESTEROL ACYLTRANSFERASE. These apolipoproteins are low in atherosclerotic patients. They are either absent or present in extremely low plasma concentration in TANGIER DISEASE.
A LDL-receptor related protein involved in clearance of chylomicron remnants and of activated ALPHA-MACROGLOBULINS from plasma.
An individual having different alleles at one or more loci regarding a specific character.
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides see GLYCEROPHOSPHOLIPIDS) or sphingosine (SPHINGOLIPIDS). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Fatty acid esters of cholesterol which constitute about two-thirds of the cholesterol in the plasma. The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Steroid acids and salts. The primary bile acids are derived from cholesterol in the liver and usually conjugated with glycine or taurine. The secondary bile acids are further modified by bacteria in the intestine. They play an important role in the digestion and absorption of fat. They have also been used pharmacologically, especially in the treatment of gallstones.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A thiol-containing non-essential amino acid that is oxidized to form CYSTINE.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The rate dynamics in chemical or physical systems.
Genotypic differences observed among individuals in a population.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.

Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia. (1/831)

OBJECTIVE: To compare the frequency of valvar and supravalvar aortic stenosis in homozygous and heterozygous familial hypercholesterolaemia (FH). DESIGN: Analysis of life time cholesterol exposure and prevalence of aortic atherosclerosis in 84 consecutive cases attending a lipid clinic. SETTING: A tertiary referral centre in London. PATIENTS: Outpatients with FH (six homozygous, 78 heterozygous). INTERVENTIONS: Maintenance of lipid lowering treatment. MAIN OUTCOME MEASURES: Calculated cholesterol x years score (CYS) and echocardiographic measurement of aortic root diameter, aortic valve thickness, and transaortic gradient. RESULTS: Four homozygotes with a mean (SD) CYS of 387 (124) mmol/1 x years had severe aortic stenosis (treatment started after seven years of age), whereas the other two had echocardiographic evidence of supravalvar thickening but no aortic valve stenosis (treatment started before three years of age). On multivariate analysis, mean transaortic gradient correlated significantly with CYS (mean = 523 (175) mmol/1 x years) in heterozygotes (p = 0.0001), but only two had severe aortic valve and root involvement. CONCLUSIONS: In patients with familial hypercholesterolaemia, aortic stenosis is common in homozygotes, and aortic root involvement is always present despite the lower CYS than in heterozygotes. It appears to be determined by short term exposure to high cholesterol concentrations in early life. Conversely, aortic root and valve involvement are rare in heterozygotes and occur only with severe, prolonged hypercholesterolaemia, possibly accelerating age related degenerative effects.  (+info)

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. (2/831)

Autosomal dominant hypercholesterolemia (ADH), one of the most frequent hereditary disorders, is characterized by an isolated elevation of LDL particles that leads to premature mortality from cardiovascular complications. It is generally assumed that mutations in the LDLR and APOB genes account for ADH. We identified one large French pedigree (HC2) and 12 additional white families with ADH in which we excluded linkage to the LDLR and APOB, implicating a new locus we named "FH3." A LOD score of 3.13 at a recombination fraction of 0 was obtained at markers D1S2892 and D1S2722. We localized the FH3 locus to a 9-cM interval at 1p34.1-p32. We tested four regional markers in another set of 12 ADH families. Positive LOD scores were obtained in three pedigrees, whereas linkage was excluded in the others. Heterogeneity tests indicated linkage to FH3 in approximately 27% of these non-LDLR/non-APOB ADH families and implied a fourth locus. Radiation hybrid mapping located four candidate genes at 1p34.1-p32, outside the critical region, showing no identity with FH3. Our results show that ADH is genetically more heterogeneous than conventionally accepted.  (+info)

Protection against atherosclerosis by estrogen is independent of plasma cholesterol levels in LDL receptor-deficient mice. (3/831)

Low density lipoprotein (LDL) receptor-deficient (LDLR-/-) mice consuming a high fat diet were used to assess the effect of endogenous and exogenous estradiol (E2) on atherosclerosis. Sexually mature female mice were ovariectomized (OVX) and implanted with subcutaneous, slow-release pellets designed to release 6 microg/day of exogenous 17beta-estradiol (17beta-E2 ), 17alpha-estradiol (17alpha-E2 ), or placebo (E2- deficient). Sham-operated control female (endogenous E2 ) and male mice were studied as controls. Aortic atherosclerotic lesion area was reduced by physiologic amounts of both endogenous and exogenous E2 compared to E2-deficient female mice. Although plasma cholesterol levels were reduced by exogenous E2 despite the absence of the LDL receptor, endogenous E2 was not associated with any cholesterol changes. In contrast, only 17alpha-E2 was associated with decreased fasting triglyceride. In subgroup analyses matched for time-averaged plasma total cholesterol, aortic lesion area was reduced by the presence of estradiol (E2 ). E2 protected LDLR-/- female mice from atherosclerosis and this protection was independent of changes in plasma cholesterol levels.  (+info)

Nitric oxide production is reduced in patients with chronic renal failure. (4/831)

In patients with chronic renal failure (CRF), atherosclerosis is a major cause of cardiovascular morbidity and mortality. Generally, atherosclerosis has been associated with a reduced bioavailability of nitric oxide (NO). Experimental studies have indicated the presence of enhanced NO degradation by reactive oxygen species as well as decreased NO production as possible causes for this reduced NO bioavailability. So far, the question whether or not NO production is impaired in patients with CRF has never been investigated. Therefore, we measured whole body NO production in 7 patients with CRF, and in 7 matched healthy subjects. To assess the relative importance of a dysfunction of NO synthase (NOS), we compared the NO production of these patients to that of 2 other groups known to have endothelial dysfunction, ie, 7 patients with familial hypercholesterolemia (FH) who did not yet have signs of clinical cardiovascular disease (all nonsmokers), and 5 cigarette smokers. These groups were also compared with 7 nonsmoking, age-matched healthy subjects. Whole body NO production, determined as in vivo arginine-to-citrulline conversion, was assessed by giving an intravenous infusion of [15N2]-arginine as a substrate for NOS and measuring isotopic plasma enrichment of [15N]-citrulline by LC-MS. NO production in the CRF patients (0.13+/-0.02 micromol. kg-1. h-1) was significantly lower (P<0.05) than in the corresponding control group (0.23+/-0.09 micromol. kg-1. h-1). NO production also tended to be lower in the FH patients (0.16+/-0.04 micromol. kg-1. h-1), but the difference with the corresponding control group did not reach significance (0.22+/-0.06 micromol. kg-1. h-1). In the group of smokers, NO production was similar to that in nonsmokers (0. 22+/-0.09 micromol. kg-1. h-1). In conclusion, it is demonstrated for the first time that basal whole body NO production is reduced in patients with CRF. This finding implies that therapeutic interventions to endothelial dysfunction in these patients should be primarily directed toward improvement of NO production. The finding of only a tendency toward reduction of NO production in patients with FH and the absence of a reduction in cigarette smokers suggests that other mechanisms such as enhanced NO degradation may be involved in the decrease of NO bioavailability in these groups.  (+info)

Enhanced plasma cholesterol lowering effect of retrovirus-mediated LDL receptor gene transfer to WHHL rabbit liver after improved surgical technique and stimulation of hepatocyte proliferation by combined partial liver resection and thymidine kinase--ganciclovir treatment. (5/831)

In this study we report an improved method for in vivo gene transfer to liver. Repeated injections of Moloney murine leukemia virus-derived retroviruses containing LDL receptor cDNA were given to the portal vein in combination with a 10% partial liver resection and stimulation of hepatocyte proliferation by plasmid/liposome-mediated thymidine kinase gene transfer and ganciclovir treatment. The method was used for the treatment of LDL receptor deficiency in Watanabe heritable hyperlipidemic rabbits. We demonstrate an increase in hepatocyte proliferation index by thymidine kinase and ganciclovir treatment from 0.9 to 1.35% and a maximum of 35% decrease in total plasma cholesterol level 2-3 months after the gene transfer. A 20% decline was still present after a 52-week follow-up period. A 50% decrease was also observed in plasma triglycerides. Liver function tests indicated a transient increase in plasma alkaline phosphatase level up to 12 weeks after the gene transfer. In situ PCR and RT-PCR analyses indicated that the transgene was present in periportal areas and was transcribed to mRNA 1 week after the gene transfer. Because of the relatively simple and controllable technique we suggest that repeated retrovirus injections via a portal vein catheter together with the limited partial liver resection and plasmid/liposome-mediated thymidine kinase gene transfer-ganciclovir treatment may be used to improve the results of retrovirus-mediated liver gene therapy.  (+info)

Secondary prevention with lipid lowering therapy in familial hypercholesterolemia: a correlation between new evolution of stenotic lesion and achieved cholesterol levels after revascularization procedures. (6/831)

OBJECT: To assess the value of secondary prevention with lipid lowering therapy following either balloon angioplasty (PTCA) or bypass surgery (CABG) in familial hypercholesterolemia patients, the correlation of the new evolution of stenotic lesions and therapeutically achieved cholesterol levels was studied in 50 patients. METHODS: All surviving patients were followed angiographically after 5 years, and findings were correlated with the annually determined total serum cholesterol (TC) levels. RESULTS: New coronary atherosclerotic plaques were not observed in 18 patients in whom the TC was controlled to <220 mg/dl but in 19 of 32 patients in whom the TC was >220 mg/dl, a new evolution of stenotic lesions was observed angiographically. CONCLUSION: The new evolution of stenotic lesions following revascularization in patients with FH can be controlled significantly by lipid lowering therapy to maintain a TC level of <220 mg/dl, and if diet alone can not achieve it, aggressive medication and even LDL apheresis might be justified.  (+info)

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL. (7/831)

BACKGROUND: Ligand-defective apolipoprotein (apo) B-100 is a major cause of hypercholesterolemia. For many years, apo B-100 (Arg3500-->Gln) has been the only mutation known to cause ligand-defective apo B-100. METHODS: Using temperature gradient gel electrophoresis, we screened 297 unrelated individuals with LDL-cholesterol >1.55 g/L and triglycerides <2.0 g/L for sequence variants of the putative LDL receptor-binding domain of apo B-100. RESULTS: We found apo B-100 (Arg3500-->Gln) in 21 individuals (7.1%). When extrapolated to the general population, this corresponds to the highest prevalence of apo B-100 (Arg3500-->Gln) reported to date. Furthermore, we identified three unrelated carriers (1%) of a silent substitution (CTG-->CTA) affecting the codon for leucine3350, four carriers (1.3%) of apo B-100 (Glu3405-->Gln), and two subjects (0.7%) with apo B-100 (Arg3500-->Trp). apo B-100 (Arg3500-->Trp) was assigned to two different, previously unknown haplotypes. The binding, uptake, and degradation of apo B-100 (Arg3500-->Trp) was lower than that of normal LDL, but higher than with apo B-100 (Arg3500-->Gln), implying that the substitution of Trp3500 for Arg may cause less severe reduction of binding than the substitution of Gln. LDL from individuals heterozygous for apo B-100 (Glu3405-->Gln) bound to LDL receptors at the same rate as normal LDL, but was taken up and degraded at significantly reduced rates, suggesting that domains of apo B-100 involved in binding and uptake do not completely overlap. CONCLUSIONS: In Germany, apo B-100 (Arg3500-->Gln) may be more frequent than previously assumed. Both apo B-100 (Arg3500-->Trp) and apo B-100 (Glu3405-->Gln) may contribute to the phenotype of ligand-defective LDL. These variants will be missed if screening is confined to apo B-100 (Arg3500-->Gln) only.  (+info)

Effects of oral folic acid supplementation on endothelial function in familial hypercholesterolemia. A randomized placebo-controlled trial. (8/831)

BACKGROUND: Folates have been suggested to be of benefit in reducing cardiovascular risk. The present study was designed to examine whether oral folic acid supplementation could improve endothelial function as an intermediate end point for cardiovascular risk in patients with increased risk of atherosclerosis due to familial hypercholesterolemia (FH). METHODS AND RESULTS: In a prospective, randomized, double-blind, placebo-controlled study with crossover design, we evaluated the effects of 4 weeks of treatment with oral folic acid (5 mg PO) on endothelial function in FH. In 20 FH patients, forearm vascular function was assessed at baseline, after 4 weeks of folic acid treatment, and after 4 weeks of placebo treatment by venous occlusion plethysmography, with serotonin and sodium nitroprusside used as endothelium-dependent and -independent vasodilators. In addition, we examined the vasoconstrictor response to the NO synthase inhibitor N(G)-monomethyl-L-arginine to assess basal NO activity. In FH patients, folic acid supplementation restored the impaired endothelium-dependent vasodilation, whereas it did not significantly influence endothelium-independent vasodilation or basal forearm vasomotion. There was a trend toward improvement in basal NO activity. CONCLUSIONS: These data demonstrate that oral supplementation of folic acid can improve endothelial function in patients with increased risk of atherosclerotic disease due to hypercholesterolemia, without changes in plasma lipids.  (+info)

Hyperlipoproteinemia Type V is a rare genetic disorder characterized by an excess of lipids (fats) in the blood. It is caused by mutations in genes responsible for the metabolism of lipoproteins, which are particles that transport fat molecules, such as cholesterol and triglycerides, throughout the body.

In Hyperlipoproteinemia Type V, there is a significant increase in the levels of both chylomicrons (lipoprotein particles that carry dietary lipids) and very low-density lipoproteins (VLDLs, lipoprotein particles that carry endogenous lipids produced by the liver). This results in extremely high levels of triglycerides and moderately elevated levels of cholesterol in the blood.

Individuals with Hyperlipoproteinemia Type V are at an increased risk for developing pancreatitis (inflammation of the pancreas), eruptive xanthomas (small, yellowish bumps on the skin caused by cholesterol deposits), and hepatosplenomegaly (enlargement of the liver and spleen). The diagnosis is typically made based on clinical presentation, family history, and laboratory tests that measure lipid levels. Treatment often involves dietary modifications, weight loss, exercise, and medications to lower lipid levels in the blood.

Hyperlipoproteinemia Type III, also known as Broad Beta Disease or Remnant Hyperlipidemia, is a genetic disorder characterized by an increased level of chylomicron remnants and intermediate-density lipoproteins (IDL) in the blood. This results in elevated levels of both low-density lipoprotein (LDL), or "bad" cholesterol, and triglycerides, and decreased levels of high-density lipoprotein (HDL), or "good" cholesterol. The condition can lead to premature atherosclerosis and an increased risk for cardiovascular disease. It is caused by mutations in the APOE gene, which encodes the apolipoprotein E protein, leading to abnormal clearance of lipoproteins from the blood.

Hyperlipoproteinemia Type II, also known as Fredrickson Type II or Familial Combined Hyperlipidemia, is a genetic disorder characterized by elevated levels of low-density lipoprotein (LDL) cholesterol and/or triglycerides in the blood. This condition can lead to an increased risk of developing cardiovascular diseases such as atherosclerosis and coronary artery disease.

The disorder is caused by mutations in several genes involved in lipid metabolism, including APOB, LDLR, PCSK9, and APOE. These genetic defects result in impaired clearance of LDL particles from the bloodstream, leading to their accumulation and increased risk of cardiovascular disease.

Individuals with Hyperlipoproteinemia Type II typically have elevated levels of both LDL cholesterol and triglycerides, although some may only have one or the other elevated. The disorder can present at any age, but it is often diagnosed in adulthood during routine cholesterol screening.

Treatment for Hyperlipoproteinemia Type II typically involves lifestyle modifications such as a heart-healthy diet, regular exercise, and weight loss. Medications such as statins, ezetimibe, and PCSK9 inhibitors may also be prescribed to lower LDL cholesterol levels and reduce the risk of cardiovascular disease.

Hyperlipoproteinemia Type I, also known as Familial Lipoprotein Lipase Deficiency, is a rare genetic disorder characterized by an absence or deficiency of the enzyme lipoprotein lipase. This enzyme is responsible for breaking down chylomicrons, which are large lipoprotein particles that transport dietary triglycerides from the intestines to the liver and peripheral tissues.

As a result of this deficiency, chylomicrons accumulate in the bloodstream, leading to elevated levels of triglycerides (hypertriglyceridemia) and chylomicrons (chylomiconemia). This condition can cause eruptive xanthomas, which are collections of lipid-laden foam cells that form under the skin, and recurrent pancreatitis, which is inflammation of the pancreas.

Hyperlipoproteinemia Type I is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Treatment typically involves a low-fat diet and medications to reduce triglyceride levels.

Hyperlipoproteinemia Type IV is a genetic disorder characterized by an increased level of very low-density lipoproteins (VLDL) in the blood. This leads to elevated levels of triglycerides, which are a type of fat found in the blood. The condition is also sometimes referred to as "Fredrickson Type IV."

People with Hyperlipoproteinemia Type IV have an increased risk of developing pancreatitis, a potentially life-threatening inflammation of the pancreas, due to high levels of triglycerides. They may also have an increased risk of cardiovascular disease due to elevated levels of VLDL and other atherogenic lipoproteins.

The condition is usually inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disorder if one parent has it. However, some cases may be caused by mutations in multiple genes or by environmental factors such as obesity, diabetes, and excessive alcohol consumption.

Treatment for Hyperlipoproteinemia Type IV typically involves lifestyle modifications such as weight loss, exercise, and dietary changes to reduce triglyceride levels. In some cases, medication may be necessary to control the condition.

Hyperlipoproteinemias are medical conditions characterized by elevated levels of lipoproteins in the blood. Lipoproteins are particles that consist of proteins and lipids, which are responsible for transporting all fat molecules, such as cholesterol and triglycerides, around the body within the water outside cells. These lipids cannot dissolve in the blood, so they must be carried by these lipoprotein particles.

There are several types of hyperlipoproteinemias, classified based on the type of lipoprotein that is elevated and the pattern of inheritance. The most commonly recognized classification system is the Fredrickson classification, which includes five main types:

1. Type I - characterized by an excess of chylomicrons, a type of lipoprotein that carries dietary lipids, leading to extremely high levels of triglycerides in the blood. This rare disorder is usually caused by genetic mutations.
2. Type II - divided into two subtypes:
a. Type IIa - characterized by elevated LDL (low-density lipoprotein), or "bad" cholesterol, levels and often associated with premature cardiovascular disease. This condition can be caused by genetic factors, lifestyle choices, or both.
b. Type IIb - marked by increased levels of both LDL cholesterol and VLDL (very low-density lipoprotein), which leads to elevated triglycerides and cholesterol in the blood. This subtype can also be influenced by genetic factors, lifestyle choices, or both.
3. Type III - known as broad beta disease or remnant removal disease, this condition is characterized by an abnormal accumulation of remnant particles from VLDL and IDL (intermediate-density lipoprotein) metabolism, leading to increased levels of both cholesterol and triglycerides. This disorder can be caused by genetic mutations or secondary factors like diabetes, obesity, or hypothyroidism.
4. Type IV - characterized by elevated VLDL particles and high triglyceride levels in the blood. This condition is often associated with metabolic syndrome, obesity, diabetes, and alcohol consumption.
5. Type V - marked by increased VLDL and chylomicrons (lipoprotein particles that transport dietary lipids) in the blood, leading to extremely high triglyceride levels. This rare condition can be caused by genetic factors or secondary factors like diabetes, obesity, alcohol consumption, or uncontrolled lipid absorption.

It is important to note that these types are not mutually exclusive and can coexist in various combinations. Additionally, lifestyle choices such as diet, exercise, smoking, and alcohol consumption can significantly impact lipoprotein levels and contribute to the development of dyslipidemia (abnormal lipid levels).

Blood protein disorders refer to a group of medical conditions that affect the production or function of proteins in the blood. These proteins are crucial for maintaining the proper functioning of the body's immune system, transporting nutrients, and preventing excessive bleeding. Some examples of blood protein disorders include:

1. Hemophilia: A genetic disorder caused by a deficiency or absence of clotting factors in the blood, leading to prolonged bleeding and poor clot formation.
2. Von Willebrand disease: A genetic disorder characterized by abnormal or deficient von Willebrand factor, which is necessary for platelet function and proper clotting.
3. Dysproteinemias: Abnormal levels of certain proteins in the blood, such as immunoglobulins (antibodies) or paraproteins, which can indicate underlying conditions like multiple myeloma or macroglobulinemia.
4. Hypoproteinemia: Low levels of total protein in the blood, often caused by liver disease, malnutrition, or kidney disease.
5. Hyperproteinemia: Elevated levels of total protein in the blood, which can be caused by dehydration, inflammation, or certain types of cancer.
6. Hemoglobinopathies: Genetic disorders affecting the structure and function of hemoglobin, a protein found in red blood cells that carries oxygen throughout the body. Examples include sickle cell anemia and thalassemia.
7. Disorders of complement proteins: Abnormalities in the complement system, which is a group of proteins involved in the immune response, can lead to conditions like autoimmune disorders or recurrent infections.

Treatment for blood protein disorders varies depending on the specific condition and its severity but may include medications, transfusions, or other medical interventions.

Apolipoprotein E2 (ApoE2) is one of the three major isoforms of the apolipoprotein E (ApoE) protein, which is a component of lipoproteins that are involved in the transport and metabolism of cholesterol and other fats in the body. ApoE is produced by the APOE gene, which has three common alleles: ε2, ε3, and ε4.

The ApoE2 protein is encoded by the ε2 allele of the APOE gene. Compared to the other two isoforms (ApoE3 and ApoE4), ApoE2 has a different amino acid at position 112, where it has a cysteine instead of an arginine. This difference affects the protein's ability to interact with other molecules involved in lipid metabolism, such as the low-density lipoprotein receptor (LDLR).

Individuals who inherit two copies of the ε2 allele (ε2/ε2) have a higher risk of developing type III hyperlipoproteinemia, also known as dysbetalipoproteinemia, which is characterized by elevated levels of cholesterol and triglycerides in the blood due to impaired clearance of remnant lipoproteins. However, not all people with the ε2/ε2 genotype develop type III hyperlipoproteinemia, and other genetic and environmental factors may contribute to the development of this condition.

It's worth noting that having one or two copies of the ε2 allele has been associated with a reduced risk of developing Alzheimer's disease, although the mechanism by which ApoE2 protects against Alzheimer's is not fully understood.

VLDL (Very Low-Density Lipoproteins) are a type of lipoprotein that play a crucial role in the transport and metabolism of fat molecules, known as triglycerides, in the body. They are produced by the liver and consist of a core of triglycerides surrounded by a shell of proteins called apolipoproteins, phospholipids, and cholesterol.

VLDL particles are responsible for delivering fat molecules from the liver to peripheral tissues throughout the body, where they can be used as an energy source or stored for later use. During this process, VLDL particles lose triglycerides and acquire more cholesterol, transforming into intermediate-density lipoproteins (IDL) and eventually low-density lipoproteins (LDL), which are also known as "bad" cholesterol.

Elevated levels of VLDL in the blood can contribute to the development of cardiovascular disease due to their association with increased levels of triglycerides and LDL cholesterol, as well as decreased levels of high-density lipoproteins (HDL), which are considered "good" cholesterol.

Hyperlipidemias are a group of disorders characterized by an excess of lipids (fats) or lipoproteins in the blood. These include elevated levels of cholesterol, triglycerides, or both. Hyperlipidemias can be inherited (primary) or caused by other medical conditions (secondary). They are a significant risk factor for developing cardiovascular diseases, such as atherosclerosis and coronary artery disease.

There are two main types of lipids that are commonly measured in the blood: low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol, and high-density lipoprotein (HDL) cholesterol, known as "good" cholesterol. High levels of LDL cholesterol can lead to the formation of plaques in the arteries, which can narrow or block them and increase the risk of heart attack or stroke. On the other hand, high levels of HDL cholesterol are protective because they help remove LDL cholesterol from the bloodstream.

Triglycerides are another type of lipid that can be measured in the blood. Elevated triglyceride levels can also contribute to the development of cardiovascular disease, particularly when combined with high LDL cholesterol and low HDL cholesterol levels.

Hyperlipidemias are typically diagnosed through a blood test that measures the levels of various lipids and lipoproteins in the blood. Treatment may include lifestyle changes, such as following a healthy diet, getting regular exercise, losing weight, and quitting smoking, as well as medication to lower lipid levels if necessary.

Xanthomatosis is a medical term that refers to the condition characterized by the presence of xanthomas, which are yellowish, fat-laden deposits that form under the skin or in other tissues. These deposits consist of lipids, such as cholesterol and triglycerides, and immune cells called macrophages, which have engulfed the lipids.

Xanthomas can occur in various parts of the body, including the eyelids, tendons, joints, and other areas with connective tissue. They may appear as small papules or larger nodules, and their size and number can vary depending on the severity of the underlying disorder.

Xanthomatosis is often associated with genetic disorders that affect lipid metabolism, such as familial hypercholesterolemia, or with acquired conditions that cause high levels of lipids in the blood, such as diabetes, hypothyroidism, and certain liver diseases. Treatment typically involves addressing the underlying disorder and controlling lipid levels through dietary changes, medications, or a combination of both.

Apolipoprotein E (ApoE) is a protein involved in the metabolism of lipids, particularly cholesterol. It is produced primarily by the liver and is a component of several types of lipoproteins, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL).

ApoE plays a crucial role in the transport and uptake of lipids in the body. It binds to specific receptors on cell surfaces, facilitating the delivery of lipids to cells for energy metabolism or storage. ApoE also helps to clear cholesterol from the bloodstream and is involved in the repair and maintenance of tissues.

There are three major isoforms of ApoE, designated ApoE2, ApoE3, and ApoE4, which differ from each other by only a few amino acids. These genetic variations can have significant effects on an individual's risk for developing certain diseases, particularly cardiovascular disease and Alzheimer's disease. For example, individuals who inherit the ApoE4 allele have an increased risk of developing Alzheimer's disease, while those with the ApoE2 allele may have a reduced risk.

In summary, Apolipoprotein E is a protein involved in lipid metabolism and transport, and genetic variations in this protein can influence an individual's risk for certain diseases.

Triglycerides are the most common type of fat in the body, and they're found in the food we eat. They're carried in the bloodstream to provide energy to the cells in our body. High levels of triglycerides in the blood can increase the risk of heart disease, especially in combination with other risk factors such as high LDL (bad) cholesterol, low HDL (good) cholesterol, and high blood pressure.

It's important to note that while triglycerides are a type of fat, they should not be confused with cholesterol, which is a waxy substance found in the cells of our body. Both triglycerides and cholesterol are important for maintaining good health, but high levels of either can increase the risk of heart disease.

Triglyceride levels are measured through a blood test called a lipid panel or lipid profile. A normal triglyceride level is less than 150 mg/dL. Borderline-high levels range from 150 to 199 mg/dL, high levels range from 200 to 499 mg/dL, and very high levels are 500 mg/dL or higher.

Elevated triglycerides can be caused by various factors such as obesity, physical inactivity, excessive alcohol consumption, smoking, and certain medical conditions like diabetes, hypothyroidism, and kidney disease. Medications such as beta-blockers, steroids, and diuretics can also raise triglyceride levels.

Lifestyle changes such as losing weight, exercising regularly, eating a healthy diet low in saturated and trans fats, avoiding excessive alcohol consumption, and quitting smoking can help lower triglyceride levels. In some cases, medication may be necessary to reduce triglycerides to recommended levels.

Lipoproteins are complex particles composed of multiple proteins and lipids (fats) that play a crucial role in the transport and metabolism of fat molecules in the body. They consist of an outer shell of phospholipids, free cholesterols, and apolipoproteins, enclosing a core of triglycerides and cholesteryl esters.

There are several types of lipoproteins, including:

1. Chylomicrons: These are the largest lipoproteins and are responsible for transporting dietary lipids from the intestines to other parts of the body.
2. Very-low-density lipoproteins (VLDL): Produced by the liver, VLDL particles carry triglycerides to peripheral tissues for energy storage or use.
3. Low-density lipoproteins (LDL): Often referred to as "bad cholesterol," LDL particles transport cholesterol from the liver to cells throughout the body. High levels of LDL in the blood can lead to plaque buildup in artery walls and increase the risk of heart disease.
4. High-density lipoproteins (HDL): Known as "good cholesterol," HDL particles help remove excess cholesterol from cells and transport it back to the liver for excretion or recycling. Higher levels of HDL are associated with a lower risk of heart disease.

Understanding lipoproteins and their roles in the body is essential for assessing cardiovascular health and managing risks related to heart disease and stroke.

Apolipoprotein E3 (ApoE3) is one of the three major isoforms of apolipoprotein E (ApoE), a protein involved in the metabolism of lipids, particularly cholesterol. ApoE is produced by the APOE gene, which has three common alleles: ε2, ε3, and ε4. These alleles result in three main isoforms of the protein: ApoE2, ApoE3, and ApoE4.

ApoE3 is the most common isoform, found in approximately 77-78% of the population. It has a slightly different amino acid sequence compared to ApoE2 and ApoE4, which can affect its function. ApoE3 is thought to play a neutral or protective role in the risk of developing Alzheimer's disease and cardiovascular diseases, although some studies suggest that it may have a mildly favorable effect on lipid metabolism compared to ApoE4.

Familial Combined Hyperlipidemia (FCH) is a genetic disorder characterized by high levels of cholesterol and/or fats (lipids) in the blood. It is one of the most common inherited lipid disorders, affecting approximately 1 in 200 to 1 in 500 people.

FCH is caused by mutations in several genes involved in lipid metabolism, including the APOB, LDLR, and PCSK9 genes. These genetic defects lead to increased levels of low-density lipoprotein (LDL) cholesterol, triglycerides, or both in the blood.

Individuals with FCH may have elevated levels of total cholesterol, LDL cholesterol, and/or triglycerides, which can increase their risk for premature atherosclerosis and cardiovascular disease. The condition often presents in early adulthood and may manifest as mixed hyperlipidemia (high levels of both LDL cholesterol and triglycerides) or isolated hypercholesterolemia (high levels of LDL cholesterol only).

Familial combined hyperlipidemia is typically managed with lifestyle modifications, such as a heart-healthy diet, regular exercise, and weight management. Medications, such as statins, may also be prescribed to lower lipid levels and reduce the risk of cardiovascular disease. Regular monitoring of lipid levels is essential for effective management and prevention of complications associated with FCH.

Cholesterol is a type of lipid (fat) molecule that is an essential component of cell membranes and is also used to make certain hormones and vitamins in the body. It is produced by the liver and is also obtained from animal-derived foods such as meat, dairy products, and eggs.

Cholesterol does not mix with blood, so it is transported through the bloodstream by lipoproteins, which are particles made up of both lipids and proteins. There are two main types of lipoproteins that carry cholesterol: low-density lipoproteins (LDL), also known as "bad" cholesterol, and high-density lipoproteins (HDL), also known as "good" cholesterol.

High levels of LDL cholesterol in the blood can lead to a buildup of cholesterol in the walls of the arteries, increasing the risk of heart disease and stroke. On the other hand, high levels of HDL cholesterol are associated with a lower risk of these conditions because HDL helps remove LDL cholesterol from the bloodstream and transport it back to the liver for disposal.

It is important to maintain healthy levels of cholesterol through a balanced diet, regular exercise, and sometimes medication if necessary. Regular screening is also recommended to monitor cholesterol levels and prevent health complications.

Lipoprotein lipase (LPL) is an enzyme that plays a crucial role in the metabolism of lipids. It is responsible for breaking down triglycerides, which are the main constituent of dietary fats and chylomicrons, into fatty acids and glycerol. These products are then taken up by cells for energy production or storage.

LPL is synthesized in various tissues, including muscle and fat, where it is attached to the inner lining of blood vessels (endothelium). The enzyme is activated when it comes into contact with lipoprotein particles, such as chylomicrons and very-low-density lipoproteins (VLDL), which transport triglycerides in the bloodstream.

Deficiencies or mutations in LPL can lead to various metabolic disorders, including hypertriglyceridemia, a condition characterized by high levels of triglycerides in the blood. Conversely, overexpression of LPL has been associated with increased risk of atherosclerosis due to excessive uptake of fatty acids by macrophages and their conversion into foam cells, which contribute to plaque formation in the arteries.

Apolipoproteins are a group of proteins that are associated with lipids (fats) in the body and play a crucial role in the metabolism, transportation, and regulation of lipids. They are structural components of lipoprotein particles, which are complexes of lipids and proteins that transport lipids in the bloodstream.

There are several types of apolipoproteins, including ApoA, ApoB, ApoC, ApoD, ApoE, and others. Each type has a specific function in lipid metabolism. For example, ApoA is a major component of high-density lipoprotein (HDL), often referred to as "good cholesterol," and helps remove excess cholesterol from cells and tissues and transport it to the liver for excretion. ApoB, on the other hand, is a major component of low-density lipoprotein (LDL), or "bad cholesterol," and plays a role in the delivery of cholesterol to cells and tissues.

Abnormal levels of apolipoproteins or dysfunctional forms of these proteins have been linked to various diseases, including cardiovascular disease, Alzheimer's disease, and metabolic disorders such as diabetes. Therefore, measuring apolipoprotein levels in the blood can provide valuable information for diagnosing and monitoring these conditions.

Low-density lipoproteins (LDL), also known as "bad cholesterol," are a type of lipoprotein that carry cholesterol and other fats from the liver to cells throughout the body. High levels of LDL in the blood can lead to the buildup of cholesterol in the walls of the arteries, which can increase the risk of heart disease and stroke.

Lipoproteins are complex particles composed of proteins (apolipoproteins) and lipids (cholesterol, triglycerides, and phospholipids) that are responsible for transporting fat molecules around the body in the bloodstream. LDL is one type of lipoprotein, along with high-density lipoproteins (HDL), very low-density lipoproteins (VLDL), and chylomicrons.

LDL particles are smaller than HDL particles and can easily penetrate the artery walls, leading to the formation of plaques that can narrow or block the arteries. Therefore, maintaining healthy levels of LDL in the blood is essential for preventing cardiovascular disease.

Chylomicrons are a type of lipoprotein that are responsible for carrying dietary lipids, such as triglycerides and cholesterol, from the intestines to other parts of the body through the lymphatic system and bloodstream. They are the largest lipoproteins and are composed of an outer layer of phospholipids, free cholesterol, and apolipoproteins, which surrounds a core of triglycerides and cholesteryl esters. Chylomicrons are produced in the intestinal mucosa after a meal containing fat, and their production is stimulated by the hormone cholecystokinin. Once in the bloodstream, chylomicrons interact with other lipoproteins and enzymes to deliver their lipid cargo to various tissues, including muscle and adipose tissue, where they are used for energy or stored for later use.

Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.

In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.

It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.

Apolipoprotein C (apoC) is a group of proteins that are associated with lipoproteins, which are complex particles composed of lipids and proteins that play a crucial role in the transport and metabolism of lipids in the body. There are three main types of apoC proteins: apoC-I, apoC-II, and apoC-III.

ApoC-I is involved in the regulation of lipoprotein metabolism and has been shown to inhibit the activity of cholesteryl ester transfer protein (CETP), which is an enzyme that facilitates the transfer of cholesteryl esters from high-density lipoproteins (HDL) to low-density lipoproteins (LDL) and very low-density lipoproteins (VLDL).

ApoC-II is a cofactor for lipoprotein lipase, an enzyme that hydrolyzes triglycerides in chylomicrons and VLDL, leading to the formation of smaller, denser lipoproteins. A deficiency in apoC-II can lead to hypertriglyceridemia, a condition characterized by elevated levels of triglycerides in the blood.

ApoC-III is also involved in the regulation of lipoprotein metabolism and has been shown to inhibit the activity of lipoprotein lipase and CETP. Elevated levels of apoC-III have been associated with an increased risk of cardiovascular disease, possibly due to its effects on lipoprotein metabolism.

In summary, apolipoprotein C is a group of proteins that are involved in the regulation of lipoprotein metabolism and have important roles in the transport and metabolism of lipids in the body.

VLDL, or very low-density lipoproteins, are a type of lipoprotein that carries triglycerides and cholesterol from the liver to other parts of the body. Cholesterol is a fatty substance found in the blood, and VLDL contains both triglycerides and cholesterol.

Cholesterol itself cannot dissolve in the blood and needs to be transported around the body by lipoproteins, which are protein molecules that encapsulate and carry fat molecules, such as cholesterol and triglycerides, through the bloodstream. VLDL is one of several types of lipoproteins, including low-density lipoproteins (LDL) and high-density lipoproteins (HDL).

Elevated levels of VLDL in the blood can contribute to the development of atherosclerosis, a condition characterized by the buildup of plaque in the arteries, which can increase the risk of heart disease and stroke. Therefore, maintaining healthy levels of VLDL and other lipoproteins is an important part of overall cardiovascular health.

LDL receptors (Low-Density Lipoprotein Receptors) are cell surface receptors that play a crucial role in the regulation of cholesterol homeostasis within the body. They are responsible for recognizing and binding to LDL particles, also known as "bad cholesterol," which are then internalized by the cell through endocytosis.

Once inside the cell, the LDL particles are broken down, releasing their cholesterol content, which can be used for various cellular processes such as membrane synthesis and hormone production. The LDL receptors themselves are recycled back to the cell surface, allowing for continued uptake of LDL particles.

Mutations in the LDL receptor gene can lead to a condition called familial hypercholesterolemia, which is characterized by high levels of LDL cholesterol in the blood and an increased risk of premature cardiovascular disease.

Apolipoprotein C-II (ApoC-II) is a type of apolipoprotein, which are proteins that bind to lipids to form lipoprotein complexes. ApoC-II is a component of several lipoproteins, including very low-density lipoproteins (VLDL) and chylomicrons, which are responsible for the transport of fat molecules, such as triglycerides and cholesterol, in the bloodstream.

ApoC-II plays a crucial role in the activation of lipoprotein lipase, an enzyme that breaks down triglycerides in VLDL and chylomicrons into fatty acids, which can then be taken up by cells for energy production or storage. Therefore, ApoC-II deficiency can lead to hypertriglyceridemia, a condition characterized by high levels of triglycerides in the blood.

In addition to its role in lipid metabolism, ApoC-II has been implicated in the development and progression of atherosclerosis, a chronic inflammatory disease that affects the arteries and can lead to serious cardiovascular complications, such as heart attack and stroke.

Paper electrophoresis is a laboratory technique used to separate and analyze mixtures of charged particles, such as proteins or nucleic acids (DNA or RNA), based on their differing rates of migration in an electric field. In this method, the sample is applied to a strip of paper, usually made of cellulose, which is then placed in a bath of electrophoresis buffer.

An electric current is applied across the bath, creating an electric field that causes the charged particles in the sample to migrate along the length of the paper. The rate of migration depends on the charge and size of the particle: more highly charged particles move faster, while larger particles move more slowly. This allows for the separation of the individual components of the mixture based on their electrophoretic mobility.

After the electrophoresis is complete, the separated components can be visualized using various staining techniques, such as protein stains for proteins or dyes specific to nucleic acids. The resulting pattern of bands can then be analyzed to identify and quantify the individual components in the mixture.

Paper electrophoresis has been largely replaced by other methods, such as slab gel electrophoresis, due to its lower resolution and limited separation capabilities. However, it is still used in some applications where a simple, rapid, and low-cost method is desired.

Gemfibrozil is a medication that belongs to a class of drugs called fibrates. It is primarily used to lower elevated levels of triglycerides (a type of fat found in the blood) and increase levels of "good" cholesterol (HDL-C) in the blood.

Gemfibrozil works by reducing the production of triglycerides in the body, increasing the breakdown of fats in the liver, and improving the way the body handles fats and sugar. It is often prescribed for people with high triglyceride levels who are at risk for pancreatitis (inflammation of the pancreas) or those who have not responded well to other cholesterol-lowering medications, such as statins.

It's important to note that while gemfibrozil can help manage triglyceride and cholesterol levels, it is not a substitute for a healthy lifestyle. Regular exercise, a balanced diet, limiting alcohol consumption, and avoiding smoking are all crucial components of maintaining good cardiovascular health.

As with any medication, gemfibrozil should be taken under the supervision of a healthcare provider, who can monitor its effectiveness and potential side effects. Common side effects of gemfibrozil include stomach pain, diarrhea, and muscle or joint pain. Rare but serious side effects may include liver damage, kidney problems, and an increased risk of gallstones.

Cholic acids are a type of bile acid, which are naturally occurring steroid acids that play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the body. Cholic acid is the primary bile acid synthesized in the liver from cholesterol. It is then conjugated with glycine or taurine to form conjugated cholic acids, which are stored in the gallbladder and released into the small intestine during digestion to aid in fat emulsification and absorption.

Cholic acid and its derivatives have also been studied for their potential therapeutic benefits in various medical conditions, including liver diseases, gallstones, and bacterial infections. However, more research is needed to fully understand the mechanisms of action and potential side effects of cholic acids and their derivatives before they can be widely used as therapeutic agents.

Chenodeoxycholic acid (CDCA) is a bile acid that is naturally produced in the human body. It is formed in the liver from cholesterol and is then conjugated with glycine or taurine to become a primary bile acid. CDCA is stored in the gallbladder and released into the small intestine during digestion, where it helps to emulsify fats and facilitate their absorption.

CDCA also has important regulatory functions in the body, including acting as a signaling molecule that binds to specific receptors in the liver, intestines, and other tissues. It plays a role in glucose and lipid metabolism, inflammation, and cell growth and differentiation.

In addition to its natural functions, CDCA is also used as a medication for the treatment of certain medical conditions. For example, it is used to dissolve gallstones that are composed of cholesterol, and it is also used to treat a rare genetic disorder called cerebrotendinous xanthomatosis (CTX), which is characterized by the accumulation of CDCA and other bile acids in various tissues.

It's important to note that while CDCA has therapeutic uses, it can also have adverse effects if taken in high doses or for extended periods of time. Therefore, it should only be used under the supervision of a healthcare professional.

Hypertriglyceridemia is a medical condition characterized by an elevated level of triglycerides in the blood. Triglycerides are a type of fat (lipid) found in your blood that can increase the risk of developing heart disease, especially when levels are very high.

In general, hypertriglyceridemia is defined as having triglyceride levels greater than 150 milligrams per deciliter (mg/dL) of blood. However, the specific definition of hypertriglyceridemia may vary depending on individual risk factors and medical history.

Hypertriglyceridemia can be caused by a variety of factors, including genetics, obesity, physical inactivity, excessive alcohol consumption, and certain medications. In some cases, it may also be a secondary consequence of other medical conditions such as diabetes or hypothyroidism. Treatment for hypertriglyceridemia typically involves lifestyle modifications such as dietary changes, increased exercise, and weight loss, as well as medication if necessary.

High-Density Lipoproteins (HDL) are a type of lipoprotein that play a crucial role in the transportation and metabolism of cholesterol in the body. They are often referred to as "good" cholesterol because they help remove excess cholesterol from cells and carry it back to the liver, where it can be broken down and removed from the body. This process is known as reverse cholesterol transport.

HDLs are composed of a lipid core containing cholesteryl esters and triglycerides, surrounded by a shell of phospholipids, free cholesterol, and apolipoproteins, primarily apoA-I. The size and composition of HDL particles can vary, leading to the classification of different subclasses of HDL with varying functions and metabolic fates.

Elevated levels of HDL have been associated with a lower risk of developing cardiovascular diseases, while low HDL levels increase the risk. However, it is essential to consider that HDL function and quality may be more important than just the quantity in determining cardiovascular risk.

Ultracentrifugation is a medical and laboratory technique used for the separation of particles of different sizes, densities, or shapes from a mixture based on their sedimentation rates. This process involves the use of a specialized piece of equipment called an ultracentrifuge, which can generate very high centrifugal forces, much greater than those produced by a regular centrifuge.

In ultracentrifugation, a sample is placed in a special tube and spun at extremely high speeds, causing the particles within the sample to separate based on their size, shape, and density. The larger or denser particles will sediment faster and accumulate at the bottom of the tube, while smaller or less dense particles will remain suspended in the solution or sediment more slowly.

Ultracentrifugation is a valuable tool in various fields, including biochemistry, molecular biology, and virology. It can be used to purify and concentrate viruses, subcellular organelles, membrane fractions, ribosomes, DNA, and other macromolecules from complex mixtures. The technique can also provide information about the size, shape, and density of these particles, making it a crucial method for characterizing and studying their properties.

Lipids are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. They include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E, and K), monoglycerides, diglycerides, triglycerides, and phospholipids. Lipids serve many important functions in the body, including energy storage, acting as structural components of cell membranes, and serving as signaling molecules. High levels of certain lipids, particularly cholesterol and triglycerides, in the blood are associated with an increased risk of cardiovascular disease.

Heparin is defined as a highly sulfated glycosaminoglycan (a type of polysaccharide) that is widely present in many tissues, but is most commonly derived from the mucosal tissues of mammalian lungs or intestinal mucosa. It is an anticoagulant that acts as an inhibitor of several enzymes involved in the blood coagulation cascade, primarily by activating antithrombin III which then neutralizes thrombin and other clotting factors.

Heparin is used medically to prevent and treat thromboembolic disorders such as deep vein thrombosis, pulmonary embolism, and certain types of heart attacks. It can also be used during hemodialysis, cardiac bypass surgery, and other medical procedures to prevent the formation of blood clots.

It's important to note that while heparin is a powerful anticoagulant, it does not have any fibrinolytic activity, meaning it cannot dissolve existing blood clots. Instead, it prevents new clots from forming and stops existing clots from growing larger.

Apolipoprotein C-III (APOC3) is a protein that is produced in the liver and circulates in the bloodstream. It is a component of certain lipoproteins, including very low-density lipoproteins (VLDL) and chylomicrons, which are responsible for transporting fat molecules, such as triglycerides and cholesterol, throughout the body.

APOC3 plays a role in regulating the metabolism of these lipoproteins. Specifically, it inhibits the activity of an enzyme called lipoprotein lipase, which breaks down triglycerides in VLDL and chylomicrons. As a result, high levels of APOC3 can lead to an increase in triglyceride levels in the blood, which is a risk factor for cardiovascular disease.

Genetic variations in the APOC3 gene have been associated with differences in triglyceride levels and risk of cardiovascular disease. Some studies have suggested that reducing APOC3 levels through genetic editing or other means may be a promising strategy for lowering triglycerides and reducing the risk of heart disease.

Dietary cholesterol is a type of cholesterol that comes from the foods we eat. It is present in animal-derived products such as meat, poultry, dairy products, and eggs. While dietary cholesterol can contribute to an increase in blood cholesterol levels for some people, it's important to note that saturated and trans fats have a more significant impact on blood cholesterol levels than dietary cholesterol itself.

The American Heart Association recommends limiting dietary cholesterol intake to less than 300 milligrams per day for most people, and less than 200 milligrams per day for those with a history of heart disease or high cholesterol levels. However, individual responses to dietary cholesterol can vary, so it's essential to monitor blood cholesterol levels and adjust dietary habits accordingly.

Lipase is an enzyme that is produced by the pancreas and found in the digestive system of most organisms. Its primary function is to catalyze the hydrolysis of fats (triglycerides) into smaller molecules, such as fatty acids and glycerol, which can then be absorbed by the intestines and utilized for energy or stored for later use.

In medical terms, lipase levels in the blood are often measured to diagnose or monitor conditions that affect the pancreas, such as pancreatitis (inflammation of the pancreas), pancreatic cancer, or cystic fibrosis. Elevated lipase levels may indicate damage to the pancreas and its ability to produce digestive enzymes.

Electrophoresis, Agar Gel is a laboratory technique used to separate and analyze DNA, RNA, or proteins based on their size and electrical charge. In this method, the sample is mixed with agarose gel, a gelatinous substance derived from seaweed, and then solidified in a horizontal slab-like format. An electric field is applied to the gel, causing the negatively charged DNA or RNA molecules to migrate towards the positive electrode. The smaller molecules move faster through the gel than the larger ones, resulting in their separation based on size. This technique is widely used in molecular biology and genetics research, as well as in diagnostic testing for various genetic disorders.

Isoelectric focusing (IEF) is a technique used in electrophoresis, which is a method for separating proteins or other molecules based on their electrical charges. In IEF, a mixture of ampholytes (molecules that can carry both positive and negative charges) is used to create a pH gradient within a gel matrix. When an electric field is applied, the proteins or molecules migrate through the gel until they reach the point in the gradient where their net charge is zero, known as their isoelectric point (pI). At this point, they focus into a sharp band and stop moving, resulting in a highly resolved separation of the different components based on their pI. This technique is widely used in protein research for applications such as protein identification, characterization, and purification.

Collagen Type II is a specific type of collagen that is a major component of the extracellular matrix in articular cartilage, which is the connective tissue that covers and protects the ends of bones in joints. It is also found in other tissues such as the vitreous humor of the eye and the inner ear.

Collagen Type II is a triple helix molecule composed of three polypeptide chains that contain a high proportion of the amino acids proline and hydroxyproline. This type of collagen provides structural support and elasticity to tissues, and it also plays a role in the regulation of cell behavior and signaling.

Collagen Type II is a target for autoimmune responses in conditions such as rheumatoid arthritis, where the immune system mistakenly attacks the body's own collagen, leading to joint inflammation and damage. It is also a common component of various dietary supplements and therapies used to support joint health and treat osteoarthritis.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Electrophoresis is a laboratory technique used in the field of molecular biology and chemistry to separate charged particles, such as DNA, RNA, or proteins, based on their size and charge. This technique uses an electric field to drive the movement of these charged particles through a medium, such as gel or liquid.

In electrophoresis, the sample containing the particles to be separated is placed in a matrix, such as a gel or a capillary tube, and an electric current is applied. The particles in the sample have a net charge, either positive or negative, which causes them to move through the matrix towards the oppositely charged electrode.

The rate at which the particles move through the matrix depends on their size and charge. Larger particles move more slowly than smaller ones, and particles with a higher charge-to-mass ratio move faster than those with a lower charge-to-mass ratio. By comparing the distance that each particle travels in the matrix, researchers can identify and quantify the different components of a mixture.

Electrophoresis has many applications in molecular biology and medicine, including DNA sequencing, genetic fingerprinting, protein analysis, and diagnosis of genetic disorders.

Apolipoprotein B (ApoB) is a type of protein that plays a crucial role in the metabolism of lipids, particularly low-density lipoprotein (LDL) or "bad" cholesterol. ApoB is a component of LDL particles and serves as a ligand for the LDL receptor, which is responsible for the clearance of LDL from the bloodstream.

There are two main forms of ApoB: ApoB-100 and ApoB-48. ApoB-100 is found in LDL particles, very low-density lipoprotein (VLDL) particles, and chylomicrons, while ApoB-48 is only found in chylomicrons, which are produced in the intestines and responsible for transporting dietary lipids.

Elevated levels of ApoB are associated with an increased risk of cardiovascular disease (CVD), as they indicate a higher concentration of LDL particles in the bloodstream. Therefore, measuring ApoB levels can provide additional information about CVD risk beyond traditional lipid profile tests that only measure total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.

Apoproteins are the protein components of lipoprotein complexes, which are responsible for transporting fat molecules, such as cholesterol and triglycerides, throughout the body. Apoproteins play a crucial role in the metabolism of lipids by acting as recognition signals that allow lipoproteins to interact with specific receptors on cell surfaces.

There are several different types of apoproteins, each with distinct functions. For example, apolipoprotein A-1 (apoA-1) is the major protein component of high-density lipoproteins (HDL), which are responsible for transporting excess cholesterol from tissues to the liver for excretion. Apolipoprotein B (apoB) is a large apoprotein found in low-density lipoproteins (LDL), very low-density lipoproteins (VLDL), and lipoprotein(a). ApoB plays a critical role in the assembly and secretion of VLDL from the liver, and it also mediates the uptake of LDL by cells.

Abnormalities in apoprotein levels or function can contribute to the development of various diseases, including cardiovascular disease, diabetes, and Alzheimer's disease. Therefore, measuring apoprotein levels in the blood can provide valuable information for diagnosing and monitoring these conditions.

Hypercholesterolemia is a medical term that describes a condition characterized by high levels of cholesterol in the blood. Specifically, it refers to an abnormally elevated level of low-density lipoprotein (LDL) cholesterol, also known as "bad" cholesterol, which can contribute to the development of fatty deposits in the arteries called plaques. Over time, these plaques can narrow and harden the arteries, leading to atherosclerosis, a condition that increases the risk of heart disease, stroke, and other cardiovascular complications.

Hypercholesterolemia can be caused by various factors, including genetics, lifestyle choices, and underlying medical conditions. In some cases, it may not cause any symptoms until serious complications arise. Therefore, regular cholesterol screening is essential for early detection and management of hypercholesterolemia. Treatment typically involves lifestyle modifications, such as a healthy diet, regular exercise, and weight management, along with medication if necessary.

Arteriosclerosis is a general term that describes the hardening and stiffening of the artery walls. It's a progressive condition that can occur as a result of aging, or it may be associated with certain risk factors such as high blood pressure, high cholesterol, diabetes, smoking, and a sedentary lifestyle.

The process of arteriosclerosis involves the buildup of plaque, made up of fat, cholesterol, calcium, and other substances, in the inner lining of the artery walls. Over time, this buildup can cause the artery walls to thicken and harden, reducing the flow of oxygen-rich blood to the body's organs and tissues.

Arteriosclerosis can affect any of the body's arteries, but it is most commonly found in the coronary arteries that supply blood to the heart, the cerebral arteries that supply blood to the brain, and the peripheral arteries that supply blood to the limbs. When arteriosclerosis affects the coronary arteries, it can lead to heart disease, angina, or heart attack. When it affects the cerebral arteries, it can lead to stroke or transient ischemic attack (TIA). When it affects the peripheral arteries, it can cause pain, numbness, or weakness in the limbs, and in severe cases, gangrene and amputation.

Apolipoprotein A (apoA) is a type of apolipoprotein that is primarily associated with high-density lipoproteins (HDL), often referred to as "good cholesterol." There are several subtypes of apoA, including apoA-I, apoA-II, and apoA-IV.

ApoA-I is the major protein component of HDL particles and plays a crucial role in reverse cholesterol transport, which is the process by which excess cholesterol is removed from tissues and delivered to the liver for excretion. Low levels of apoA-I have been linked to an increased risk of cardiovascular disease.

ApoA-II is another protein component of HDL particles, although its function is less well understood than that of apoA-I. Some studies suggest that apoA-II may play a role in regulating the metabolism of HDL particles.

ApoA-IV is found in both HDL and chylomicrons, which are lipoprotein particles that transport dietary lipids from the intestine to the liver. The function of apoA-IV is not well understood, but it may play a role in regulating appetite and energy metabolism.

Overall, apolipoproteins A are important components of HDL particles and play a critical role in maintaining healthy lipid metabolism and reducing the risk of cardiovascular disease.

Low-Density Lipoprotein Receptor-Related Protein 1 (LRP1) is a large transmembrane receptor protein that belongs to the low-density lipoprotein receptor family. It plays a crucial role in various biological processes, including cellular signaling, endocytosis, and intracellular trafficking of ligands. LRP1 is widely expressed in many tissues, particularly in the brain, liver, and vascular endothelial cells.

LRP1 interacts with a diverse array of ligands, such as extracellular matrix proteins, apolipoproteins, proteinases, proteinase inhibitors, and various pathogen-associated molecules. The receptor is involved in the clearance of these ligands from the extracellular space through endocytosis, followed by intracellular degradation or recycling.

In the context of lipid metabolism, LRP1 has been implicated in the cellular uptake and degradation of Apolipoprotein E (ApoE)-containing lipoproteins, which are involved in the reverse transport of cholesterol from peripheral tissues to the liver. Dysregulation of LRP1 function has been linked to several diseases, including atherosclerosis, Alzheimer's disease, and various neurological disorders.

In summary, Low-Density Lipoprotein Receptor-Related Protein 1 (LRP1) is a multifunctional transmembrane receptor that plays essential roles in cellular signaling, endocytosis, and intracellular trafficking of various ligands. Its dysfunction has been implicated in several diseases related to lipid metabolism, neurodegeneration, and neurological disorders.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Electrophoresis, polyacrylamide gel (EPG) is a laboratory technique used to separate and analyze complex mixtures of proteins or nucleic acids (DNA or RNA) based on their size and electrical charge. This technique utilizes a matrix made of cross-linked polyacrylamide, a type of gel, which provides a stable and uniform environment for the separation of molecules.

In this process:

1. The polyacrylamide gel is prepared by mixing acrylamide monomers with a cross-linking agent (bis-acrylamide) and a catalyst (ammonium persulfate) in the presence of a buffer solution.
2. The gel is then poured into a mold and allowed to polymerize, forming a solid matrix with uniform pore sizes that depend on the concentration of acrylamide used. Higher concentrations result in smaller pores, providing better resolution for separating smaller molecules.
3. Once the gel has set, it is placed in an electrophoresis apparatus containing a buffer solution. Samples containing the mixture of proteins or nucleic acids are loaded into wells on the top of the gel.
4. An electric field is applied across the gel, causing the negatively charged molecules to migrate towards the positive electrode (anode) while positively charged molecules move toward the negative electrode (cathode). The rate of migration depends on the size, charge, and shape of the molecules.
5. Smaller molecules move faster through the gel matrix and will migrate farther from the origin compared to larger molecules, resulting in separation based on size. Proteins and nucleic acids can be selectively stained after electrophoresis to visualize the separated bands.

EPG is widely used in various research fields, including molecular biology, genetics, proteomics, and forensic science, for applications such as protein characterization, DNA fragment analysis, cloning, mutation detection, and quality control of nucleic acid or protein samples.

LDL, or low-density lipoprotein, is often referred to as "bad" cholesterol. It is one of the lipoproteins that helps carry cholesterol throughout your body. High levels of LDL cholesterol can lead to a buildup of cholesterol in your arteries, which can increase the risk of heart disease and stroke.

Cholesterol is a type of fat (lipid) that is found in the cells of your body. Your body needs some cholesterol to function properly, but having too much can lead to health problems. LDL cholesterol is one of the two main types of cholesterol; the other is high-density lipoprotein (HDL), or "good" cholesterol.

It's important to keep your LDL cholesterol levels in a healthy range to reduce your risk of developing heart disease and stroke. A healthcare professional can help you determine what your target LDL cholesterol level should be based on your individual health status and risk factors.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

Phospholipids are a major class of lipids that consist of a hydrophilic (water-attracting) head and two hydrophobic (water-repelling) tails. The head is composed of a phosphate group, which is often bound to an organic molecule such as choline, ethanolamine, serine or inositol. The tails are made up of two fatty acid chains.

Phospholipids are a key component of cell membranes and play a crucial role in maintaining the structural integrity and function of the cell. They form a lipid bilayer, with the hydrophilic heads facing outwards and the hydrophobic tails facing inwards, creating a barrier that separates the interior of the cell from the outside environment.

Phospholipids are also involved in various cellular processes such as signal transduction, intracellular trafficking, and protein function regulation. Additionally, they serve as emulsifiers in the digestive system, helping to break down fats in the diet.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Cholesteryl esters are formed when cholesterol, a type of lipid (fat) that is important for the normal functioning of the body, becomes combined with fatty acids through a process called esterification. This results in a compound that is more hydrophobic (water-repelling) than cholesterol itself, which allows it to be stored more efficiently in the body.

Cholesteryl esters are found naturally in foods such as animal fats and oils, and they are also produced by the liver and other cells in the body. They play an important role in the structure and function of cell membranes, and they are also precursors to the synthesis of steroid hormones, bile acids, and vitamin D.

However, high levels of cholesteryl esters in the blood can contribute to the development of atherosclerosis, a condition characterized by the buildup of plaque in the arteries, which can increase the risk of heart disease and stroke. Cholesteryl esters are typically measured as part of a lipid profile, along with other markers such as total cholesterol, HDL cholesterol, and triglycerides.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Bile acids and salts are naturally occurring steroidal compounds that play a crucial role in the digestion and absorption of lipids (fats) in the body. They are produced in the liver from cholesterol and then conjugated with glycine or taurine to form bile acids, which are subsequently converted into bile salts by the addition of a sodium or potassium ion.

Bile acids and salts are stored in the gallbladder and released into the small intestine during digestion, where they help emulsify fats, allowing them to be broken down into smaller molecules that can be absorbed by the body. They also aid in the elimination of waste products from the liver and help regulate cholesterol metabolism.

Abnormalities in bile acid synthesis or transport can lead to various medical conditions, such as cholestatic liver diseases, gallstones, and diarrhea. Therefore, understanding the role of bile acids and salts in the body is essential for diagnosing and treating these disorders.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Cysteine is a semi-essential amino acid, which means that it can be produced by the human body under normal circumstances, but may need to be obtained from external sources in certain conditions such as illness or stress. Its chemical formula is HO2CCH(NH2)CH2SH, and it contains a sulfhydryl group (-SH), which allows it to act as a powerful antioxidant and participate in various cellular processes.

Cysteine plays important roles in protein structure and function, detoxification, and the synthesis of other molecules such as glutathione, taurine, and coenzyme A. It is also involved in wound healing, immune response, and the maintenance of healthy skin, hair, and nails.

Cysteine can be found in a variety of foods, including meat, poultry, fish, dairy products, eggs, legumes, nuts, seeds, and some grains. It is also available as a dietary supplement and can be used in the treatment of various medical conditions such as liver disease, bronchitis, and heavy metal toxicity. However, excessive intake of cysteine may have adverse effects on health, including gastrointestinal disturbances, nausea, vomiting, and headaches.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

In the context of medicine and pharmacology, "kinetics" refers to the study of how a drug moves throughout the body, including its absorption, distribution, metabolism, and excretion (often abbreviated as ADME). This field is called "pharmacokinetics."

1. Absorption: This is the process of a drug moving from its site of administration into the bloodstream. Factors such as the route of administration (e.g., oral, intravenous, etc.), formulation, and individual physiological differences can affect absorption.

2. Distribution: Once a drug is in the bloodstream, it gets distributed throughout the body to various tissues and organs. This process is influenced by factors like blood flow, protein binding, and lipid solubility of the drug.

3. Metabolism: Drugs are often chemically modified in the body, typically in the liver, through processes known as metabolism. These changes can lead to the formation of active or inactive metabolites, which may then be further distributed, excreted, or undergo additional metabolic transformations.

4. Excretion: This is the process by which drugs and their metabolites are eliminated from the body, primarily through the kidneys (urine) and the liver (bile).

Understanding the kinetics of a drug is crucial for determining its optimal dosing regimen, potential interactions with other medications or foods, and any necessary adjustments for special populations like pediatric or geriatric patients, or those with impaired renal or hepatic function.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

HDL (High-Density Lipoprotein) cholesterol is often referred to as "good" cholesterol. It is a type of lipoprotein that helps remove excess cholesterol from cells and carry it back to the liver, where it can be broken down and removed from the body. High levels of HDL cholesterol have been associated with a lower risk of heart disease and stroke.

Reference values, also known as reference ranges or reference intervals, are the set of values that are considered normal or typical for a particular population or group of people. These values are often used in laboratory tests to help interpret test results and determine whether a patient's value falls within the expected range.

The process of establishing reference values typically involves measuring a particular biomarker or parameter in a large, healthy population and then calculating the mean and standard deviation of the measurements. Based on these statistics, a range is established that includes a certain percentage of the population (often 95%) and excludes extreme outliers.

It's important to note that reference values can vary depending on factors such as age, sex, race, and other demographic characteristics. Therefore, it's essential to use reference values that are specific to the relevant population when interpreting laboratory test results. Additionally, reference values may change over time due to advances in measurement technology or changes in the population being studied.

The liver is a large, solid organ located in the upper right portion of the abdomen, beneath the diaphragm and above the stomach. It plays a vital role in several bodily functions, including:

1. Metabolism: The liver helps to metabolize carbohydrates, fats, and proteins from the food we eat into energy and nutrients that our bodies can use.
2. Detoxification: The liver detoxifies harmful substances in the body by breaking them down into less toxic forms or excreting them through bile.
3. Synthesis: The liver synthesizes important proteins, such as albumin and clotting factors, that are necessary for proper bodily function.
4. Storage: The liver stores glucose, vitamins, and minerals that can be released when the body needs them.
5. Bile production: The liver produces bile, a digestive juice that helps to break down fats in the small intestine.
6. Immune function: The liver plays a role in the immune system by filtering out bacteria and other harmful substances from the blood.

Overall, the liver is an essential organ that plays a critical role in maintaining overall health and well-being.

Coronary artery disease, often simply referred to as coronary disease, is a condition in which the blood vessels that supply oxygen-rich blood to the heart become narrowed or blocked due to the buildup of fatty deposits called plaques. This can lead to chest pain (angina), shortness of breath, or in severe cases, a heart attack.

The medical definition of coronary artery disease is:

A condition characterized by the accumulation of atheromatous plaques in the walls of the coronary arteries, leading to decreased blood flow and oxygen supply to the myocardium (heart muscle). This can result in symptoms such as angina pectoris, shortness of breath, or arrhythmias, and may ultimately lead to myocardial infarction (heart attack) or heart failure.

Risk factors for coronary artery disease include age, smoking, high blood pressure, high cholesterol, diabetes, obesity, physical inactivity, and a family history of the condition. Lifestyle changes such as quitting smoking, exercising regularly, eating a healthy diet, and managing stress can help reduce the risk of developing coronary artery disease. Medical treatments may include medications to control blood pressure, cholesterol levels, or irregular heart rhythms, as well as procedures such as angioplasty or bypass surgery to improve blood flow to the heart.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

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Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are ... Two molecules of ApoC-II can attach to each LPL dimer. It is estimated that up to forty LPL dimers may act simultaneously on a ... In the Golgi apparatus, the oligosaccharides are further altered to result in either two complex chains, or two complex and one ... These two regions are attached by a peptide linker. The N-terminus domain has an α/β hydrolase fold, which is a globular ...
For example, familial hypercholesterolemia (Type IIa hyperlipoproteinemia) may be associated with xanthelasma palpebrarum ( ... Type III hyperlipidemia may be associated with xanthomata of the palms, knees and elbows. Hypercholesterolemia is typically due ... Once lipid-lowering therapy is initiated, people with type 2 diabetes mellitus should be taking at least moderate doses of a ... For those people with type 2 diabetes who are taking statins, routine monitoring of liver function tests or muscle enzymes is ...
Familial hyperlipoproteinemia type I Familial hyperlipoproteinemia type III Familial hyperlipoproteinemia type IV Familial ... dysplasia lethal Faciocardiorenal syndrome Faciooculoacousticorenal syndrome Facioscapulohumeral muscular dystrophy Factor II ... syndrome Fox-Fordyce disease Fragile X syndrome Fragile X syndrome type 1 Fragile X syndrome type 2 Fragile X syndrome type 3 ... Fucosidosis type 1 Fucosidosis Fugue state Fuhrmann-Rieger-De Sousa syndrome Fukuda-Miyanomae-Nakata syndrome Fukuyama-type ...
This defect is characterized by the presence of only two valve leaflets. It may occur in isolation or in concert with other ... Mitral stenosis is uncommon and not as age-dependent as other types of valvular disease. Mitral insufficiency can be caused by ... Hypertension, diabetes mellitus, hyperlipoproteinemia and uremia may speed up the process of valvular calcification. Heart ... Auscultation may reveal a systolic murmur of a harsh crescendo-decrescendo type, heard in 2nd right intercostal space and ...
... or type III hyperlipoproteinemia is a condition characterized by increased total cholesterol ... Primary hyperlipoproteinemia Apolipoprotein B deficiency List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; ... Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. James, William D.; Berger, ...
... hyperlipoproteinemia type IV MeSH C18.452.339.750.495 - hyperlipoproteinemia type V MeSH C18.452.339.750.552 - lipoprotein ... glycogen storage disease type I MeSH C18.452.648.202.449.500 - glycogen storage disease type II MeSH C18.452.648.202.449.510 - ... hyperlipoproteinemia type IV MeSH C18.452.648.556.484 - hyperlipoproteinemia type III MeSH C18.452.648.556.490 - ... hyperlipoproteinemia type IV MeSH C18.452.648.556.495 - hyperlipoproteinemia type V MeSH C18.452.648.556.500 - ...
Septic arthritis Type IIa hyperlipoproteinemia Amyloidosis Multicentric reticulohistiocytosis Hyperparathyroidism ... Prescription will read prednisone 20 mg, two tabs PO Qa.m. x 7d, #14 0RF. 2. Colchicine 0.6 mg tabs - two tabs by mouth once ... 32 (2): 255-73, v. doi:10.1016/j.rdc.2006.03.002. PMID 16716879. Canhão H, Fonseca JE, Leandro MJ, et al. (2001). "Cross- ... 20 (2): 119-22. doi:10.1007/s100670170081. PMID 11346223. S2CID 19200365. Archived from the original on 2001-05-17. Retrieved ...
There are two types of centre-surround structures in the retina - on-centres and off-centres. On-centres have a positively ... of the eye Duplex retina Retinal scan Retinal vein occlusion List of xanthoma variants associated with hyperlipoproteinemia ... The primary light-sensing cells in the retina are the photoreceptor cells, which are of two types: rods and cones. Rods ... In the retinal ganglion cells there are two types of response, depending on the receptive field of the cell. The receptive ...
They occur in hyperlipoproteinaemia type III and type IIA, and in association with biliary cirrhosis. The presence of palmar ... Tendon xanthomas are associated with type II hyperlipidemia, chronic biliary tract obstruction, primary biliary cirrhosis, ... Other types of xanthoma identified in the Medical Dictionary include: Xanthoma diabeticorum: a type of eruptive xanthoma, often ... Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia.[citation needed] The ...
Hyperchylomicronemia or hyperlipoproteinemia is a type of inherited hyperlipidemia in cats. Polyneuropathy is caused by ... Several breeds are affected: Boxer symptoms usually occur around two months of age as a slowly progressive disease. Dachshund ( ... The most common type is Coonhound paralysis. This is similar to Guillain-Barré syndrome in humans. Coonhound paralysis seems to ... "Natural Clostridium botulinum Type C Toxicosis in a Group of Cats". J Clin Microbiol. 42 (11): 5406-8. doi:10.1128/JCM.42.11. ...
... also known as type I hyperlipoproteinaemia) is an inherited disease where people have abnormally high levels of some types of ... Volanesorsen, is an 'antisense oligonucleotide,' a very short piece of synthetic RNA (a type of genetic material). It has been ... Lowering of Plasma Apolipoprotein C-III by Volanesorsen Improves Dyslipidemia and Insulin Sensitivity in Type 2 Diabetes". ... It is a second-generation 2'-O-methoxyethyl (2'-MOE) chimeric antisense therapeutic oligonucleotide (ASO) that targets the ...
... incorporating diabetes mellitus type II, hypertension, central obesity and CH). Excessive free fatty acid production by various ... it shows as a hyperlipoproteinemia type IIB. It is the most commonly inherited lipid disorder, occurring in around one in 200 ... The two forms of this lipid disorder are: Familial combined hyperlipidemia (FCH) is the familial occurrence of this disorder, ...
A pattern compatible with hyperlipoproteinemia type IIa on the Fredrickson classification is typically found: raised level of ... Class II: LDLR is not properly transported from the endoplasmic reticulum to the Golgi apparatus for expression on the cell ... There are five types of familial dyslipidemia (not including subtypes), and each are classified from both the altered lipid ... Having two abnormal copies (being homozygous) may cause severe cardiovascular disease in childhood. Heterozygous FH is a common ...
... type I; 125850; HNF4A MODY, type II; 125851; GCK MODY, type III; 600496; HNF1A MODY, type IV; 606392; IPF1 Mohr-Tranebjærg ... CCM1 Hyperlipoproteinemia, type Ib; 207750; APOC2 Hyperlysinemia; 238700; AASS Hypermethioninemia, persistent, autosomal ... type; 230800; GBA Gaucher disease, type II; 230900; GBA Gaucher disease, type III; 231000; GBA Gaucher disease, type IIIC; ... type II; 125420; DSPP Dentinogenesis imperfecta, Shields type II; 125490; DSPP Dentinogenesis imperfecta, Shields type III; ...
... essential Fredrickson Type IV hyperlipoproteinemia 272.2 Hyperlipidemia, mixed Fredrickson Type IIb or III hyperlipoproteinemia ... Disorders of fatty acid oxidation metabolism Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase II ... Diabetes mellitus type 1 (250.x2) Diabetes mellitus type 2, uncontrolled (250.x3) Diabetes mellitus type 1, uncontrolled 249 ... xanthoma Xanthoma tuberosum 272.3 Hyperchylomicronemia Bürger-Grütz syndrome Fredrickson type I or V hyperlipoproteinemia ...
An example of such test is a genetic test to find an underlying mutation in certain types of hereditary colon cancer. AIDS ... the palmar xanthomata seen on the hands of people suffering from hyperlipoproteinemia, Negri bodies within brain tissue ... ISBN 978-0-7817-7815-2. Mattes FM, McLaughlin JE, Emery VC, Clark DA, Griffiths PD (August 2000). "Histopathological detection ...
There are two differences, however: the IDF definition states that if body mass index (BMI) is greater than 30 kg/m2, central ... Type 2 diabetes is considered a complication of metabolic syndrome. In people with impaired glucose tolerance or impaired ... Singer P (May 1977). "[Diagnosis of primary hyperlipoproteinemias]". Zeitschrift für die Gesamte Innere Medizin und Ihre ... HPA-axis dysfunction may explain the reported risk indication of abdominal obesity to cardiovascular disease (CVD), type 2 ...
One way is its presentation in the body (including the specific type of lipid that is increased). The other way is due to the ... A system for phenotyping hyperlipoproteinemia. Circulation 1965;31:321-327. Vijan, Sandeep (February 28, 2020). "Screening for ... Physicians and basic researchers classify dyslipidemias in two distinct ways. ... but not in patients with Type 2 diabetes). PCSK9 inhibitors are monoclonal antibodies that target an important protein in the ...
Hyperlipoproteinemia is elevated levels of lipoproteins. Hypercholesterolemia is the presence of high levels of cholesterol in ... They are mostly transported in a phospholipid capsule, and the type of protein embedded in this outer shell determines the fate ... where some types favour transport towards body tissues and others towards the liver for excretion into the intestines. The 1987 ... 37 (2): 49-52. doi:10.1177/003693309203700208. PMID 1609267. Dobson, HM; Muir, MM; Hume, R (1984). "The effect of ascorbic acid ...
The phenotypes include types I, IIa, IIb, III, IV, and V dyslipidemias. Familial hypertriglyceridemia is considered a type IV ... Primary hyperlipoproteinemia Familial apoprotein CII deficiency Skin lesion Ripatti P, Rämö JT, Mars NJ, Fu Y, Lin J, Söderlund ... Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing ... 1 November 2009). "A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by ...
... hyperlipoproteinemia type IV MeSH C16.320.565.556.483 - hyperlipoproteinemia type III MeSH C16.320.565.556.487 - ... glycogen storage disease type I MeSH C16.320.565.202.449.500 - glycogen storage disease type II MeSH C16.320.565.202.449.510 - ... hyperlipoproteinemia type IV MeSH C16.320.565.556.493 - hyperlipoproteinemia type V MeSH C16.320.565.556.500 - ... glycogen storage disease type II MeSH C16.320.565.150.435.590 - mucolipidoses MeSH C16.320.565.150.435.810 - sialic acid ...
Type I hyperlipoproteinemia (HLP) treatment. Dietary fat should be restricted to 15% of energy intake. Because medium-chain ... LDL-C ≥130-159 mg/dL with two high-level risk factors or one high-level risk factor and two or more moderate-level risk factors ... Type I HLP treatment. Pharmacotherapy to lower lipids is not indicated for type I HLP. However, in the future, high-dose ... Type IV HLP and type V HLP treatment. Children with a strong family history of premature cardiovascular disease are not ...
Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia ... Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia N J Stone, R I Levy, D S Fredrickson, J ... Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia N J Stone et al. Circulation. 1974 Mar. ... The importance of type IV hyperlipoproteinemia as a predisposing factor in coronary artery disease. Salel AF, Riggs K, Mason DT ...
Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation. Patient ... If you inherit two copies of the defective gene, you have a poorer outcome. That type of familial hypercholesterolemia does not ... There are several types of drugs available to help lower blood cholesterol level, and they work in different ways. Some are ...
Hyperlipoproteinemia Type II* / blood * Hyperlipoproteinemia Type II* / complications * Hyperlipoproteinemia Type II* / drug ...
Autosomal dominant cerebellar ataxia type I. Amyotrophy occasionally prominent finding in SCAs, particularly types II and III; ... Autosomal dominant cerebellar ataxia type I. Amyotrophy occasionally prominent finding in SCAs, particularly types II and III; ... same locus as that of hereditary sensorimotor neuropathy type 2D) [62] ... same locus as that of hereditary sensorimotor neuropathy type 2D) [62] ...
Hyperlipoproteinemia type II is further classified into types IIa and IIb, depending mainly on whether elevation in the ... Hyperlipoproteinemia type V, also known as mixed hyperlipoproteinemia familial or mixed hyperlipidemia, is very similar to type ... "Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency". Atherosclerosis. 34 (1): 53-65. doi:10.1016/ ... Type I hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency (type Ia), due to a deficiency of ...
Hyperlipoproteinemia Type II. Hypobetalipoproteinemia. Hypobetalipoproteinemias. Hypolipoproteinemia. Hypolipoproteinemias. ...
Hyperlipoproteinemia Type II/complications; Hyperlipoproteinemia Type II/genetics*; Male; Middle Aged; Public Health; Risk ...
Hyperlipoproteinemia Type II* / chemically induced Actions. * Search in PubMed * Search in MeSH ... Dominique Larrey 1 , Laura DErasmo 2 , Sallyann OBrien 3 , Marcello Arca 2 ; Italian Working Group on Lomitapide ... Dominique Larrey 1 , Laura DErasmo 2 , Sallyann OBrien 3 , Marcello Arca 2 ; Italian Working Group on Lomitapide ... 2014 Sep;15(2):33-45. doi: 10.1016/j.atherosclerosissup.2014.07.005. Atheroscler Suppl. 2014. PMID: 25257075 Review. ...
Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 01/2013. 1. Hypercholesterolemia 01/2013. 1. Acute Coronary ... 2. Coronary Artery Disease (Coronary Atherosclerosis) 07/2014 - 01/2014. 2. Schizophrenia (Dementia Praecox) 07/2010 - 12/2006 ...
Familial type II hyperlipoproteinemia with coronary heart disease: Effect of diet-colestipol-nicotinic acid treatment. Chest ... Define the type of hyperlipoproteinemia, as described in NCEP guidelines.. 2.. Institute a trial of diet and weight reduction. ... Two or More Other Risk Factors†. Initiation Level. Goal. * Coronary heart disease or peripheral vascular disease (including ... Lipoprotein LpAI is one of the two major lipoprotein particles within the high-density lipoprotein (HDL) density range3, and ...
Familial type II hyperlipoproteinemia with coronary heart disease: Effect of diet-colestipol-nicotinic acid treatment. Chest ... 1. Define the type of hyperlipoproteinemia, as described in NCEP guidelines.. 2. Institute a trial of diet and weight reduction ... Lipoprotein LpAI is one of the two major lipoprotein particles within the high-density lipoprotein (HDL) density range3, and ... In these randomized, controlled clinical trials, patients were treated for two to four years by either conventional measures ( ...
Soybean-protein diet in the treatment of type-II hyperlipoproteinaemia. Lancet 1977;1:275-7. ... LDL-C (in mmol/L) was calculated by the method of Friedewald et al using all data including the two participants who had ... Low-carbohydrate-diet score and risk of type 2 diabetes in women. Am J Clin Nutr 2008;87:339-46. ... Regular consumption of nuts is associated with a lower risk of cardiovascular disease in women with type 2 diabetes. J Nutr ...
Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia). Arthritis Rheum. 1968 Jun. 11(3):385- ...
An Isolated Case of Hyperlipoproteinaemia Resembling Type II. B.M.S Bedi, A Chandrasekar, A Venkatesan, K Balasubramanian, HM ...
Hyperlipoproteinemia Type II 1 0 Meningomyelocele 1 0 Note: The number of publications displayed in this table will differ from ...
Hyperlipoproteinemia Type II. *Humans. *Heterozygote. *Follow-Up Studies. Citation. APA Chicago ICMJE ...
Hyperlipoproteinemia type II A has two forms: primitive and secondary (associated with cholestasis or hypothyroidia). Which ... It is a hyperlipoproteinemia type II A, diagnosed by: elevated serum low-density lipoprotein cholesterol (LDLc) with normal ... The final diagnosis was xanthodermia in context of hyperlypoproteinemia type II A, no treatment was recommended, and the child ... Ii a has two forms: primitive and secondary ( associated with cholestasis or hypothyroidia.... Ingestion of nutrient ...
Hyperlipoproteinemia Type 2s Hyperlipoproteinemia Type IIs Hyperlipoproteinemia, Type II Hyperlipoproteinemias, Type II ... Type II Hyperlipoproteinemia. Type II Hyperlipoproteinemias. Type IIa Hyperlipoproteinemia. Type IIa Hyperlipoproteinemias. ... Hyperlipoproteinemia Type 2s. Hyperlipoproteinemia Type IIa. Hyperlipoproteinemia Type IIas. Hyperlipoproteinemia Type IIb. ... Type II. Hyperlipoproteinemia, Type IIa. Hyperlipoproteinemias, Familial Combined. Hyperlipoproteinemias, Type II. ...
Hyperlipoproteinemia Type II. Hypobetalipoproteinemia. Hypobetalipoproteinemias. Hypolipoproteinemia. Hypolipoproteinemias. ...
Hyperlipoproteinemia Type II. Hypobetalipoproteinemia. Hypobetalipoproteinemias. Hypolipoproteinemia. Hypolipoproteinemias. ...
Hyperlipoproteinemia Type II. Hypobetalipoproteinemia. Hypobetalipoproteinemias. Hypolipoproteinemia. Hypolipoproteinemias. ...
Hyperlipoproteinemia Type II. Hypobetalipoproteinemia. Hypobetalipoproteinemias. Hypolipoproteinemia. Hypolipoproteinemias. ...
Apolipoproteins B; Brazil; Genetic testing; Humans; Hyperlipoproteinemia Type II; Introns; Mutation, Missense; Proprotein ... Adult; Brazil; Case-control studies; Diabetes Mellitus, Type 1; Female; Gene frequency; Glucose Transporter Type 4; Humans; ... It contains two EF-hand domains that are well conserved across diverse species from protozoa to plants and metazoans. The loss ... Type 1 diabetes (T1D) is an autoimmune disease with a strong genetic component that has been associated with several genetic ...
Hyperlipoproteinemia Type II. 1. + + 8. Thyroid Hormone Resistance Syndrome. 1. + + 9. Acanthosis Nigricans. 1. + + ...
Hyperlipoproteinemia Type II 100% * Registries 63% * Lipids 26% * Databases 19% * Cardiovascular Diseases 17% ... Jessel, P. M. & Henrikson, C. A., Jul 2023, In: Heart Rhythm. 20, 7, p. 982-983 2 p.. Research output: Contribution to journal ... Aslan, J. E., Mar 2023, In: Journal of Thrombosis and Haemostasis. 21, 3, p. 465-466 2 p.. Research output: Contribution to ... Zahr, F. & Chadderdon, S., Aug 1 2023, In: Catheterization and Cardiovascular Interventions. 102, 2, p. 400-401 2 p.. Research ...

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