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Phosphatidylcholine-Sterol O-AcyltransferaseMutationLecithin Acyltransferase DeficiencyMolecular Sequence DataProtein TransportSaccharomyces cerevisiaeCell LineEndoplasmic ReticulumAmino Acid SequenceRNA, MessengerProtein BindingCells, CulturedTranscription FactorsSignal TransductionTransfectionVitamin A DeficiencyApolipoprotein A-IDeficiency Diseasesalpha 1-Antitrypsin DeficiencyVitamin B 12 DeficiencyMice, KnockoutCholesterol EstersCorneal OpacityLipoproteins, HDLVitamin D DeficiencyFolic Acid DeficiencyMice, Inbred C57BLThiamine DeficiencyIgA DeficiencyLiverCholesterolLipoproteinsGlucosephosphate Dehydrogenase DeficiencyVitamin E DeficiencyEsterificationMagnesium DeficiencyHypolipoproteinemiasBase SequenceAnemia, Iron-DeficiencyPhenotypeAscorbic Acid DeficiencyIronKineticsImmunologic Deficiency SyndromesProtein C DeficiencyDisease Models, AnimalTime FactorsIgG DeficiencyCholesterol Ester Transfer ProteinsLipid MetabolismLipidsPedigreeVitamin B 6 DeficiencyMice, TransgenicBiological TransportApolipoprotein A-IICholesterol, HDLTriglyceridesSterol O-AcyltransferaseCarrier ProteinsHeterozygoteFactor V DeficiencyTangier DiseaseHomozygoteGene ExpressionLipoprotein-XRiboflavin DeficiencyMetabolism, Inborn ErrorsZincPhosphatidylcholinesFibroblastsApolipoproteinsAntithrombin III DeficiencyPoint MutationBlotting, WesternPhospholipidsLipid Metabolism, Inborn ErrorsVitamin K DeficiencyGene Expression RegulationGene Expression Regulation, PlantApolipoproteins AApolipoproteins EModels, BiologicalFatty AcidsLipoproteins, LDLFactor VII DeficiencyGene DeletionMacrophagesApoptosisFactor XI DeficiencyProtein DeficiencyMembrane ProteinsMicroscopy, ElectronATP Binding Cassette Transporter 1CricetinaeRecombinant ProteinsDose-Response Relationship, DrugCell NucleusBrainVitamin B Deficiency
Complete LCAT deficiencyLecithin:cholesteroCornealLipoproteinCaused by mutationsLipidFamilialMaturationImpairABCA1GeneLipoproteinsTangierLipidsEnzymeDiseasesTissuesParticlesActivityProductionSpecificDataFormationFamilial LCATHigh-density lipMutationsArtery wallsPremature coronary arteryAtherosclerosisCholesteryl esterLysophosphatidylcholineCharacterized by the absenceCholesterol in certainCorneal opacificationBiochemicalEndothelialAbnormalVitroMacrophageHDLsAnemiaFreePreventTherapy
Complete LCAT deficiency16
  • The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency. (wikipedia.org)
  • citation needed] Kidney failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause of morbidity is visual impairment due to corneal opacity. (wikipedia.org)
  • Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. (blogspot.com)
  • In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. (blogspot.com)
  • As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision. (blogspot.com)
  • People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. (blogspot.com)
  • Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis). (blogspot.com)
  • How common is complete LCAT deficiency? (blogspot.com)
  • Complete LCAT deficiency is a rare disorder. (blogspot.com)
  • What genes are related to complete LCAT deficiency? (blogspot.com)
  • Complete LCAT deficiency is caused by mutations in the LCAT gene. (blogspot.com)
  • LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. (blogspot.com)
  • How do people inherit complete LCAT deficiency? (blogspot.com)
  • Where can I find information about diagnosis or management of complete LCAT deficiency? (blogspot.com)
  • You might also find information on the diagnosis or management of complete LCAT deficiency in Educational resources and Patient support . (blogspot.com)
  • You may find the following resources about complete LCAT deficiency helpful. (blogspot.com)
Lecithin:cholestero2
  • Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. (wikipedia.org)
  • There was no clinicopathological data suggesting lipoprotein glomerulopathy or lecithin cholesterol acyltransferase deficiency, both of which are well-known causes of glomerular lipidosis. (biomedcentral.com)
Corneal1
  • Schnyder corneal dystrophy (SCD), also called Schnyder crystalline corneal dystrophy (SCCD), is a rare autosomal-dominant stromal dystrophy that is characterized by bilateral corneal opacification, resulting from an abnormal accumulation of cholesterol and lipid. (medscape.com)
Lipoprotein3
  • Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). (blogspot.com)
  • Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL). (blogspot.com)
  • Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. (nih.gov)
Caused by mutations1
  • Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. (wikipedia.org)
Lipid2
  • However, numerous lab tests may help with making a diagnosis such as complete blood count (CBC), urinalysis, blood chemistries, lipid panels, and plasma LCAT activity. (wikipedia.org)
  • Pathological accumulation of lamellar bodies are also known in lipid storage diseases (e.g. (bvsalud.org)
Familial3
  • Both diseases are very rare with ~70 reported cases of familial LCAT deficiency and ~30 cases of fish-eye disease. (wikipedia.org)
  • However, extreme HDL deficiencies caused by rare autosomal recessive disorders, including familial hypoalphalipoproteinemia (HA), familial lecithin-cholesterol acetyltransferase (LCAT) deficiency, and Tangier disease, do not always correlate with more frequent CHD. (medscape.com)
  • Patients with a deficiency of LPL or apo C-II show a dramatic accumulation of chylomicrons in the plasma (type I hyperlipoproteinemia, or familial LPL deficiency) even if fasted. (pharmacy180.com)
Maturation5
  • LCAT is the enzyme that esterifies the free cholesterol on HDL to cholesterol ester and allows the maturation of HDL. (wikipedia.org)
  • LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apolipoprotein A1 and apolipoprotein A2. (wikipedia.org)
  • Similarly, co-infection of apoE-/- mice with apoE4 and human LCAT corrected the hypercholesterolaemia and generated spherical particles, suggesting that LCAT is essential for the maturation of apoE-containing HDL. (omicsdi.org)
  • Among these factors, lecithin:cholesterol acyltransferase (LCAT), the enzyme responsible of cholesterol esterification in plasma, plays a major role in HDL maturation [ 3 ]. (biomedcentral.com)
  • LCAT, the major player in HDL maturation, is mainly synthesized by the liver but also in the brain, suggesting a crucial role of this enzyme in the maturation of brain lipoproteins, although LCAT concentration in the cerebrospinal fluid (CSF) is much lower than in plasma [ 12 ]. (biomedcentral.com)
Impair1
  • LCAT deficiency does not impair amyloid metabolism in APP/PS1 mice. (omicsdi.org)
ABCA16
  • Pathway of biogenesis of apolipoprotein E-containing HDL in vivo with the participation of ABCA1 and LCAT. (omicsdi.org)
  • We have found that apoE4-185, -202, -229, or -259 could promote ATP-binding cassette transporter A1 (ABCA1)-dependent cholesterol efflux in vitro, although less efficiently than Full-length apoE4, and had diminished capacity to activate lecithin cholesterol acyltransferase (LCAT). (omicsdi.org)
  • ApoA-IV promotes the biogenesis of apoA-IV-containing HDL particles with the participation of ABCA1 and LCAT. (omicsdi.org)
  • The objective of this study was to establish the role of apoA-IV, ABCA1, and LCAT in the biogenesis of apoA-IV-containing HDL (HDL-A-IV) using different mouse models. (omicsdi.org)
  • migrating HDL particles were not detectable following gene transfer of apoA-IV in ABCA1(-/-) or LCAT(-/-) mice. (omicsdi.org)
  • Our findings are consistent with a novel function of apoA-IV in the biogenesis of discrete HDL-A-IV particles with the participation of ABCA1 and LCAT, and may explain previously reported anti-inflammatory and atheroprotective properties of apoA-IV. (omicsdi.org)
Gene6
  • Definitive diagnosis requires LCAT gene analysis for mutation and functional activity. (wikipedia.org)
  • The mutation in the LCAT gene is homozygous for a Thr123→Ile mutation or Pro10→Leu mutation. (wikipedia.org)
  • New mutations have been identified as homozygosity for an A2205→G nucleotide substitution in exon 4 of the LCAT gene which is predicted to be the cause of an Asp131→Asn substitution. (wikipedia.org)
  • This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). (blogspot.com)
  • LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas. (blogspot.com)
  • Read more about the LCAT gene. (blogspot.com)
Lipoproteins4
  • citation needed] The LCAT glycoprotein produces lysophosphatidylcholine and cholesterol ester and binds to lipoproteins after being secreted by the liver. (wikipedia.org)
  • However, there is only a partial deficiency because the enzyme remains active on the cholesterol particles in very low density lipoproteins (VLDL) and low density lipoproteins (LDL). (wikipedia.org)
  • The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. (blogspot.com)
  • Combined infection of apoA-I-/- mice with a mixture of adenoviruses expressing both apoE4 (2x10(9) pfu) and human LCAT (lecithin:cholesterol acyltransferase) (5x10(8) pfu) cleared the triacylglycerol-rich lipoproteins, increased HDL and converted the discoidal HDL into spherical HDL. (omicsdi.org)
Tangier1
  • The etiology of HDL deficiencies ranges from secondary causes, such as smoking, to specific genetic mutations, such as Tangier disease and fish-eye disease. (medscape.com)
Lipids1
  • Glomerular lipidosis is a rare histological feature presenting the extensive glomerular accumulation of lipids with or without histiocytic infiltration, which develops under various conditions. (biomedcentral.com)
Enzyme1
  • The enzyme has two major functions, called alpha- and beta-LCAT activity. (blogspot.com)
Diseases1
  • Neonates of mothers with PE have a high risk of cardiovascular diseases, stroke, mental retardation, sensory deficiencies and an increased risk of developing metabolic diseases. (biomedcentral.com)
Tissues2
  • A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. (wikipedia.org)
  • APOA1, a secreted protein belonging to the apolipoprotein A1/A4/E family, participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). (nih.gov)
Particles1
  • Two-dimensional gel electrophoresis of plasma and electron microscopy showed that truncated apoE forms generated distinct HDL subpopulations and formed discoidal HDL particles which could be converted to spherical by co-administration of truncated apoE4-202 and LCAT. (omicsdi.org)
Activity1
Production1
Specific1
  • Currently, there is no specific treatment to correct the LCAT deficiency so therapy is focused on symptom relief. (wikipedia.org)
Data1
  • These data highlight that LD is an important target organelle for Cd-induced steroid hormone deficiency in males. (bvsalud.org)
Formation2
  • Coexpression of apoA-IV and LCAT in apoA-I(-/-) mice restored the formation of HDL-A-IV. (omicsdi.org)
  • The accumulation of PA regulated by PLCß2-DAG-DGKε signal pathway is responsible for the formation of large LDs and insufficient steroid hormone synthesis in Leydig cells exposed to Cd. (bvsalud.org)
Familial LCAT13
  • The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency. (wikipedia.org)
  • Both diseases are very rare with ~70 reported cases of familial LCAT deficiency and ~30 cases of fish-eye disease. (wikipedia.org)
  • The two familial forms of LCAT deficiency are termed familial LCAT deficiency (complete LCAT deficiency) and fish eye disease (partial LCAT deficiency). (medscape.com)
  • Familial LCAT deficiency (FLD), first reported in 1967 in a Norwegian family, is characterized by the absence of LCAT activity towards HDL and LDL. (medscape.com)
  • Familial LCAT deficiency and fish eye disease are both autosomal recessive disorders caused by mutations of the LCAT gene. (medscape.com)
  • [ 1 ] Only one LCAT gene has been discovered, with certain mutations of the gene resulting in familial LCAT deficiency and other mutations of the gene causing fish eye disease. (medscape.com)
  • [ 2 , 3 ] The exact location of the mutations of the LCAT gene cannot yet be used to predict the clinical or biochemical manifestations of either familial LCAT deficiency or fish eye disease. (medscape.com)
  • Familial LCAT deficiency and fish eye disease are rare. (medscape.com)
  • Out of 70 families screened worldwide, at least 60 patients with either familial LCAT deficiency or fish eye disease have been reported. (medscape.com)
  • A detailed analysis of ethnicity in familial LCAT deficiency and fish eye disease is difficult because of the rarity of these conditions. (medscape.com)
  • The clinical and biochemical features of familial LCAT deficiency and fish eye disease are highly variable. (medscape.com)
  • In patients with familial LCAT deficiency, symptoms are related to anemia, corneal opacities, renal insufficiency, and atherosclerosis (rarely). (medscape.com)
  • It is currently being tested at the NIH in early stage clinical trials to treat familial LCAT deficiency (FLT) and acute coronary syndrome. (nih.gov)
High-density lip3
  • We also focused on its mechanism of LCAT activation and the therapeutic activity with improvement of HDL (high-density lipoprotein) functionality. (nih.gov)
  • Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). (medlineplus.gov)
  • Lecithin-cholesterol acyltransferase (LCAT) is a lipoprotein-associated enzyme which plays a large role in the esterification of free cholesterol, the maturation of high density-lipoprotein (HDL) particles, and the intravascular stage of reverse cholesterol transport (RCT). (medscape.com)
Mutations2
  • LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas. (medlineplus.gov)
  • New mutations have been identified as homozygosity for an A2205→G nucleotide substitution in exon 4 of the LCAT gene which is predicted to be the cause of an Asp131→Asn substitution. (wikipedia.org)
Artery walls2
  • lymphadenopathy) or an accumulation of fatty deposits on the artery walls ( atherosclerosis ). (medlineplus.gov)
  • [2] HDL particles are commonly referred to as "good cholesterol", because they transport fat molecules out of artery walls, reduce macrophage accumulation, and thus help prevent or even regress atherosclerosis. (wikipedia.org)
Premature coronary artery1
  • Some of the diseases the laboratory investigates include Degos disease, premature coronary artery disease, Hyper IgE Syndrome, deficiency of adenosine deaminase 2 (DADA2), STING-associated vasculopathy with onset in infancy (SAVI), arterial calcification due to deficiency of CD73 (ACDC), and cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy (CADASIL). (nih.gov)
Atherosclerosis2
  • Enhancement of LCAT (lecithin:cholesterol acyltransferase) activity has possibility to be beneficial for atherosclerosis. (nih.gov)
  • Increasing concentrations of HDL particles are associated with decreasing accumulation of atherosclerosis within the walls of arteries, [4] reducing the risk of sudden plaque ruptures , cardiovascular disease , stroke and other vascular diseases . (wikipedia.org)
Cholesteryl ester1
  • [12] A plasma enzyme called lecithin-cholesterol acyltransferase (LCAT) converts the free cholesterol into cholesteryl ester (a more hydrophobic form of cholesterol), which is then sequestered into the core of the lipoprotein particle, eventually causing the newly synthesized HDL to assume a spherical shape. (wikipedia.org)
Lysophosphatidylcholine1
Characterized by the absence1
  • Fish eye disease, initially described in two families of Swedish origin, is characterized by the absence of LCAT activity towards HDL only. (medscape.com)
Cholesterol in certain2
  • A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. (wikipedia.org)
  • The clinical manifestations of LCAT deficiency are likely due to a defect in LCAT-mediated cholesterol ester formation and, therefore, accumulation of unesterified (free) cholesterol in certain tissues, such as the cornea, kidneys, and erythrocytes. (medscape.com)
Corneal opacification1
  • [ 4 ] Fish eye disease is characterized by partial reduction of LCAT and only manifests as progressive corneal opacification. (medscape.com)
Biochemical1
  • Experiments made then, and later, revealed no local biochemical defects that explained this sterol accumulation. (nih.gov)
Endothelial2
  • HDLs were isolated from LCAT-deficient carriers and tested in vitro for their capacity to promote NO production and to inhibit vascular cell adhesion molecule-1 (VCAM-1) expression in cultured endothelial cells. (inra.fr)
  • Detailed cell subtype annotation of endothelial cells showed the uterine-specific deficiency of blood vascular subclasses, indicating a potential adaptation for a low reproductive energy expenditure. (biomedcentral.com)
Abnormal1
  • Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. (nih.gov)
Vitro1
  • Approach and Results: DS-8190a activated human and cynomolgus monkey but not mouse LCAT enzymes in vitro. (nih.gov)
Macrophage1
  • This produces cholesterol accumulation in macrophages to levels characteristic of macrophage foam cells in atherosclerotic plaques without requiring oxidative modification of LDL. (nih.gov)
HDLs1
Anemia1
  • The RDW is a quantitative index of variability in RBC size, and is increased in regenerative anemia and iron deficiency anemia. (vin.com)
Free1
Prevent1
  • CMs also have capacities on lipoprotein formation and secretion to prevent lipotoxicity of TAG and FA accumulation [ 14 ]. (biomedcentral.com)
Therapy3
  • Currently, there is no specific treatment to correct the LCAT deficiency so therapy is focused on symptom relief. (wikipedia.org)
  • In a cooperative research and development agreement with an outside company, Dr. Remaley's laboratory has been instrumental in the development of recombinant lecithin cholesterol acyl transferase (LCAT) as a possible therapy. (nih.gov)
  • Preclinical animal studies from Dr. Remaley's laboratory have also demonstrated that a combination therapy of recombinant LCAT and HDL acts synergistically in the removal of cholesterol from cells. (nih.gov)