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Acception of cholesterol from cells in men of the Russian population correlates with concentration of pre-beta1 high-density lipoproteins.

https://arctichealth.org/en/permalink/ahliterature182095
Source
Bull Exp Biol Med. 2003 Oct;136(4):366-8
Publication Type
Article
Date
Oct-2003
Author
A P Serdyuk
K. Lasselin
G. Castro
O A Litinskaya
G. Frushar
V A Metel'skaya
Author Affiliation
Department of Metabolic Disorders, State Research Center for Preventive Medicine, Russian Ministry of Health, Moscow. vicamet@orc.ru
Source
Bull Exp Biol Med. 2003 Oct;136(4):366-8
Date
Oct-2003
Language
English
Publication Type
Article
Keywords
Animals
Apolipoprotein A-I - blood
Carcinoma, Hepatocellular - chemistry
Cell Line, Tumor
Chemical Fractionation
Cholesterol - blood - chemistry - metabolism
Cholesterol, HDL - blood - chemistry - isolation & purification
Electrophoresis, Gel, Two-Dimensional
Humans
Male
Middle Aged
Patient Selection
Phosphatidylcholine-Sterol O-Acyltransferase - blood
Rats
Russia - epidemiology
Triglycerides - blood
Abstract
We analyzed subfraction composition of HDL and cholesterol-acceptor properties of the plasma in Russian men with high and low HDL cholesterol. HDL were subfractionated by two-dimensional electrophoresis in agarose-polyacrylamide gel. The content of pre-beta1 HDL increased in individuals with high concentration of HDL cholesterol and strictly correlated with acception of cellular cholesterol in both groups.
PubMed ID
14714084 View in PubMed
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The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.

https://arctichealth.org/en/permalink/ahliterature201292
Source
J Hum Genet. 1999;44(4):225-9
Publication Type
Article
Date
1999
Author
C P Busch
S B Harris
A J Hanley
B. Zinman
R A Hegele
Author Affiliation
John P. Robarts Research Institute, University of Western Ontario, London, Canada.
Source
J Hum Genet. 1999;44(4):225-9
Date
1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Alleles
Analysis of Variance
Blood Pressure - genetics
CCAAT-Enhancer-Binding Proteins
Canada
Child
DNA-Binding Proteins - genetics
Female
Genetic Variation
Genotype
Humans
Indians, North American
Male
Middle Aged
Nuclear Proteins - genetics
Polymorphism, Genetic
Sterol Regulatory Element Binding Protein 1
Transcription Factors
Abstract
Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, which were performed in a variety of human population samples derived from different genetic backgrounds, have given inconsistent results. We examined the association between the ADD1 G460W polymorphism and variation in blood pressure in a sample of non-diabetic, largely normotensive Canadian Oji-Cree from an isolated community in Northern Ontario. Among 481 Oji-Cree subjects, we measured blood pressure and related clinical phenotypes and determined genotypes of ADD1 G460W. We observed an allele frequency of 0.08 for the ADD1 W460 variant, which is among the lowest so far observed in human populations. We found significant associations between variation in both systolic and diastolic blood pressure and gender, age, body mass index (BMI), and treatment for hypertension. However, we found no association between the ADD1 W460 allele and increased blood pressure, nor did we observe a higher frequency of the W460 allele in a hypertensive subgroup compared with normotensive subjects. While the low sample frequency of ADD1 W460 is consistent with the low sample prevalence of hypertension, the absence of a specific association with both blood pressure and hypertension suggests that the ADD1 W460 variant is not an important determinant of blood pressure among individuals of this genetic background.
PubMed ID
10429360 View in PubMed
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An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

https://arctichealth.org/en/permalink/ahliterature224472
Source
Biochem Biophys Res Commun. 1992 Jan 31;182(2):583-7
Publication Type
Article
Date
Jan-31-1992
Author
G. Skretting
H. Prydz
Author Affiliation
Biotechnology Centre of Oslo, Norway.
Source
Biochem Biophys Res Commun. 1992 Jan 31;182(2):583-7
Date
Jan-31-1992
Language
English
Publication Type
Article
Keywords
Base Sequence
Corneal Diseases - enzymology - genetics
DNA - blood - genetics - isolation & purification
Exons
Humans
Lipoproteins - blood
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Phosphatidylcholine-Sterol O-Acyltransferase - genetics
Polymerase Chain Reaction
Sweden
Syndrome
Abstract
The exons of the lecithin:cholesterol acyltransferase (LCAT) gene in DNA samples from two of the original Swedish Fish Eye Disease patients have been amplified by polymerase chain reactions and sequenced by the dideoxy method. The two patients apparently were unrelated. In both patients a mutation in codon 10 of the first exon was found, altering proline10 to leucine. We note that the mutations causing Fish Eye Disease as well as those causing classical LCAT deficiency are spread over most of the translated gene. Why these various mutations in the same gene give rise to two different disease phenotypes remains unexplained.
Notes
Erratum In: Biochem Biophys Res Commun 1992 Apr 15;184(1):549
PubMed ID
1571050 View in PubMed
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Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.

https://arctichealth.org/en/permalink/ahliterature126395
Source
Obesity (Silver Spring). 2012 Oct;20(10):2075-82
Publication Type
Article
Date
Oct-2012
Author
Frédéric Guénard
Alain Houde
Luigi Bouchard
André Tchernof
Yves Deshaies
Simon Biron
Odette Lescelleur
Laurent Biertho
Simon Marceau
Louis Pérusse
Marie-Claude Vohl
Author Affiliation
Nutraceuticals and Functional Foods Institute, Laval University, Quebec City, Quebec, Canada.
Source
Obesity (Silver Spring). 2012 Oct;20(10):2075-82
Date
Oct-2012
Language
English
Publication Type
Article
Keywords
Adult
Cardiovascular diseases - blood - epidemiology - genetics
Cohort Studies
Female
Humans
Male
Metabolic Syndrome X - blood - epidemiology - genetics
Obesity, Morbid - blood - epidemiology - genetics
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Quebec - epidemiology
Sequence Analysis, DNA
Sterol Esterase - blood - genetics
Triglycerides - blood
Wolman Disease - epidemiology - genetics
Abstract
The lipase A, lysosomal acid, cholesterol esterase enzyme (LIPA) is involved in the hydrolysis of triglycerides (TGs) and cholesteryl esters (CEs) delivered to lysosomes. LIPA deficiency in human causes two distinct phenotypes characterized by intracellular storage of CE and derangements in the control of cholesterol production, namely the Wolman disease (WD) and the CE storage disease (CESD). To test the potential association of LIPA gene polymorphisms with obesity-related metabolic complications, promoter, exons, and intronic flanking regions of the LIPA gene were first sequenced in 25 individuals. From the 14 common polymorphisms identified, 12 tagging single-nucleotide polymorphisms (tSNPs) were genotyped in a cohort of 1,751 obese individuals. After adjustments for the effect of age, sex, diabetes, and medication, the C allele of SNP rs1051338 was associated with lower blood pressure (BP; systolic (SBP) P = 0.004; diastolic (DBP) P = 0.006). Three of the tested SNPs were associated with modifications of the plasma lipid profile. The G/G genotype of rs2071509 was associated with higher high-density lipoprotein cholesterol (HDL-C) levels (P = 0.009) and minor allele of rs1131706 was also associated with higher HDL-C (P = 0.004) and an association between rs3802656 and total cholesterol (total-C)/HDL-C ratio was identified (P = 0.04). These results thus suggest that LIPA polymorphisms contribute to the interindividual variability observed in obesity-related metabolic complications.
PubMed ID
22395809 View in PubMed
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Association of variants in the sterol regulatory element-binding factor 1 (SREBF1) gene with type 2 diabetes, glycemia, and insulin resistance: a study of 15,734 Danish subjects.

https://arctichealth.org/en/permalink/ahliterature87077
Source
Diabetes. 2008 Apr;57(4):1136-42
Publication Type
Article
Date
Apr-2008
Author
Grarup Niels
Stender-Petersen Kirstine L
Andersson Ehm A
Jørgensen Torben
Borch-Johnsen Knut
Sandbaek Annelli
Lauritzen Torsten
Schmitz Ole
Hansen Torben
Pedersen Oluf
Author Affiliation
Steno Diabetes Center, Copenhagen, Denmark. ngrp@steno.dk
Source
Diabetes. 2008 Apr;57(4):1136-42
Date
Apr-2008
Language
English
Publication Type
Article
Keywords
Cohort Studies
Denmark - epidemiology
Diabetes Mellitus, Type 2 - epidemiology - genetics
Glucose Tolerance Test
Humans
Insulin Resistance - genetics
Linkage Disequilibrium
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Sterol Regulatory Element Binding Protein 1 - genetics
Variation (Genetics)
Abstract
OBJECTIVE: We evaluated the association of variants in the sterol regulatory element-binding factor 1 gene (SREBF1) with type 2 diabetes. Due to the previous inconclusive quantitative trait associations, we also did studies of intermediate quantitative phenotypes. RESEARCH DESIGN AND METHODS: We genotyped four variants in SREBF1 in the population-based Inter99 cohort (n = 6,070), the Danish ADDITION study (n = 8,662), and in additional type 2 diabetic patients (n = 1,002). The case-control studies involved 2,980 type 2 diabetic patients and 4,522 glucose-tolerant subjects. RESULTS: The minor alleles of rs2297508, rs11868035, and rs1889018 (linkage disequilibrium R(2) = 0.6-0.8) associated with a modestly increased risk of type 2 diabetes (rs2297508: OR 1.17 [95% CI 1.05-1.30], P = 0.003), which was confirmed in meta-analyses of all published studies (rs2297508 G-allele: 1.08 [1.03-1.14] per allele, P = 0.001). The diabetes-associated alleles also associated strongly with a higher plasma glucose at 30 and 120 min and serum insulin at 120 min during an oral glucose tolerance test (all P
PubMed ID
18192539 View in PubMed
Less detail

Central melanocortin stimulation increases phosphorylated perilipin A and hormone-sensitive lipase in adipose tissues.

https://arctichealth.org/en/permalink/ahliterature97242
Source
Am J Physiol Regul Integr Comp Physiol. 2010 Jul;299(1):R140-9
Publication Type
Article
Date
Jul-2010
Author
Y B Shrestha
C H Vaughan
B J Smith
C K Song
D J Baro
T J Bartness
Author Affiliation
Department of Biology, Georgia State University, Atlanta, Georgia 30302-4010, USA.
Source
Am J Physiol Regul Integr Comp Physiol. 2010 Jul;299(1):R140-9
Date
Jul-2010
Language
English
Publication Type
Article
Keywords
Adipose Tissue - innervation - metabolism - physiology
Adipose Tissue, Brown - metabolism
Adipose Tissue, White - metabolism
Animals
Central Nervous System Stimulants - metabolism
Cricetinae
Epididymis - metabolism
Fatty Acids, Nonesterified - blood - metabolism
Glycerol - blood - metabolism
Lipolysis - physiology
Male
Melanocortins - metabolism
Norepinephrine - blood - metabolism
Peptides, Cyclic
Phodopus
Phosphoproteins
Phosphorylation
Receptor, Melanocortin, Type 4 - genetics - metabolism
Sterol Esterase - metabolism
Sympathetic Nervous System - metabolism - physiology
alpha-MSH - analogs & derivatives
Abstract
Norepinephrine (NE) released from the sympathetic nerves innervating white adipose tissue (WAT) is the principal initiator of lipolysis in mammals. Central WAT sympathetic outflow neurons express melanocortin 4-receptor (MC4-R) mRNA. Single central injection of melanotan II (MTII; MC3/4-R agonist) nonuniformly increases WAT NE turnover (NETO), increases interscapular brown adipose tissue (IBAT) NETO, and increases the circulating lipolytic products glycerol and free fatty acid. The WAT pads that contributed to this lipolysis were inferred from the increases in NETO. Because phosphorylation of perilipin A (p-perilipin A) and hormone-sensitive lipase are necessary for NE-triggered lipolysis, we tested whether MTII would increase these intracellular markers of lipolysis. Male Siberian hamsters received a single 3rd ventricular injection of MTII or saline. Trunk blood was collected at 0.5, 1.0, and 2.0 h postinjection from excised inguinal, retroperitoneal, and epididymal WAT (IWAT, RWAT, and EWAT, respectively) and IBAT pads. MTII increased circulating glycerol concentrations at 0.5 and 1.0 h, whereas free fatty acid concentrations were increased at 1.0 and 2.0 h. Western blot analysis showed that MTII specifically increased p-perilipin A and hormone-sensitive lipase only in fat pads that previously had MTII-induced increases in NETO. Phosphorylation increased in IWAT at all time points and IBAT at 0.5 h, but not RWAT or EWAT at any time point. These results show for the first time in rodents that p-perilipin A can serve as an in vivo, fat pad-specific indictor of lipolysis and extend our previous findings showing that central melanocortin stimulation increases WAT lipolysis.
PubMed ID
20410474 View in PubMed
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Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype.

https://arctichealth.org/en/permalink/ahliterature150387
Source
Atherosclerosis. 2009 Dec;207(2):452-7
Publication Type
Article
Date
Dec-2009
Author
Alexis Baass
Hanny Wassef
Michel Tremblay
Lise Bernier
Robert Dufour
Jean Davignon
Author Affiliation
Hyperlipidemia and Atherosclerosis Research Group, Clinical Research Institute of Montreal (IRCM), Montreal, QC, Canada. a.baass@umontreal.ca
Source
Atherosclerosis. 2009 Dec;207(2):452-7
Date
Dec-2009
Language
English
Publication Type
Article
Keywords
Adult
Aged
Apolipoprotein A-I - blood
Apolipoprotein E2 - blood - genetics
Apolipoproteins B - blood
Biological Markers - blood
Cholesterol, HDL - blood
Cholesterol, LDL - blood
Chromatography, Gel
DNA Mutational Analysis
Electrophoresis, Agar Gel
Frameshift Mutation
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Hyperlipoproteinemia Type III - blood - enzymology - genetics
Lecithin Acyltransferase Deficiency - blood - enzymology - genetics
Male
Middle Aged
Pedigree
Phenotype
Phosphatidylcholine-Sterol O-Acyltransferase - genetics
Quebec
Risk factors
Sequence Deletion
Triglycerides - blood
Young Adult
Abstract
Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as proteinuria and renal failure. We have identified the first French Canadian kindred with familial LCAT deficiency. Two brothers, presenting classical signs of FLD, were shown to be homozygous for a novel LCAT mutation. This c.102delG mutation occurs at the codon for His35 and causes a frameshift that stops transcription at codon 61 abolishing LCAT enzymatic activity both in vivo and in vitro. It has a dramatic effect on the lipoprotein profile, with an important reduction of HDL-C in both heterozygotes (22%) and homozygotes (88%) and a significant decrease in LDL-C in heterozygotes (35%) as well as homozygotes (58%). Furthermore, the lipoprotein profile differs markedly between the two affected brothers who had different APOE genotypes. We propose that APOE could be an important modifier gene explaining heterogeneity in lipoprotein profiles observed among FLD patients. Our results suggest that a LCAT-/- genotype associated with an APOE epsilon2 allele could be a novel mechanism leading to dysbetalipoproteinemia.
PubMed ID
19515369 View in PubMed
Less detail

[Cholesterol synthesis in the skin of rats with rickets]

https://arctichealth.org/en/permalink/ahliterature62496
Source
Ukr Biokhim Zh. 1976 Sep-Oct;48(5):645-9
Publication Type
Article
Author
V L Semenov
Z M Datsenko
Source
Ukr Biokhim Zh. 1976 Sep-Oct;48(5):645-9
Language
Ukrainian
Publication Type
Article
Keywords
Animals
Cholecalciferol - deficiency
Cholesterol - biosynthesis - radiation effects
Diet
English Abstract
Rats
Rickets - metabolism
Skin - analysis - metabolism - radiation effects
Sterols - analysis
Time Factors
Ultraviolet Rays
Vitamin D Deficiency - metabolism
Abstract
The rachitogenic diet causes an inhibition of cholesterol synthesis in rat skin. Intensity of 2-14S-acetate incorporation into cholesterol precursors (matastenol, lathosterol, 7-dehydrocholesterol) and cholesterol drops considerably. UV-irradiation of animals suffering from rachitis intensifies cholesterol synthesis in skin. Simulteneously an increase is detected in the metabolic fund of cholesterol synthesis precursors, including 7-dehydrocholesterol, which is necessary to form antirachitic compounds in the organism.
PubMed ID
191968 View in PubMed
Less detail

42 records – page 1 of 5.