each day. Dietary sterol absorption and the sites of defects in sitosterolaemia By continuing you agree to the Division of Endocrinology, Diabetes and Medical Genetics, Medical University of South Carolina, STR 541, 114 Doughty Street, Charleston, SC 29403, USADivision of Endocrinology, Diabetes and Medical Genetics, Medical University of South Carolina, STR 541, 114 Doughty Street, Charleston, SC 29403, USADivision of Endocrinology, Diabetes and Medical Genetics, Medical University of South Carolina, STR 541, 114 Doughty Street, Charleston, SC 29403, USA Contact Genetic analyses of other families suggest that some mutations occurred more than 1800 years ago.Cholesterol, once synthesised or absorbed, can only be disposed of by the body via the bile system, either by direct excretion or by breakdown into bile acids. Findings of genetic studies also suggest that some of the mutations that cause sitosterolaemia might be old; analyses of the Amish-Mennonite community indicate that their mutation might have been brought from Europe to the Americas around the late 1700s. And since sitosterol was the major plant sterol present in the sisters’ blood, they named the disease sitosterolaemia.The disorder is not well recognised by the general medical community, or by many lipid specialists. The identification of sitosterolaemia has focused attention on the basic processes that govern how we normally absorb dietary cholesterol and keep all other sterols out. its metabolic effects. homeostasis and represents the first step that allows dietary cholesterol to exert enters the body; it is very selective with regard to the sterols that are allowed dietary cholesterol, by the formation of emulsions, is readily appreciated, the recognition Although the role of bile salts in the initial absorption of A more effective therapy for reducing raised concentrations of cholesterol might also affect loss of cholesterol. By continuing you agree to the A newly described lipid storage disease in two sisters.Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol.Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis.Increased sitosterol absorption, decreased removal, and expanded body pools compensate for reduced cholesterol synthesis in sitosterolemia with xanthomatosis.Sluggish sitosterol turnover and hepatic failure to excrete sitosterol into bile cause expansion of body pool of sitosterol in patients with sitosterolemia and xanthomatosis.Mapping a gene involved in regulating dietary cholesterol absorption. To read this article in full you will need to make a paymentSynthesis and destruction of cholesterol in the organism.Role of liver in the maintenance of cholesterol and low density lipoprotein homeostasis in different animal species, including humans.Centripetal cholesterol flux to the liver is dictated by events in the peripheral organs and not by the plasma high density lipoprotein or apolipoprotein A-I concentration.Increased sitosterol absorption is offset by rapid elimination to prevent accumulation in heterozygotes with sitosterolemia.Genetics of responsiveness to high-fat and high-cholesterol diets in the mouse.Hyper- and hypo-responsiveness to dietary fat and cholesterol among inbred mice: searching for level and variability genes.Genetic variation in cholesterol absorption efficiency among inbred strains of mice.A genetic and correlation analysis of liver cholesterol concentration in rat recombinant inbred strains fed a high cholesterol diet.Genetic differences in cholesterol absorption in 129/Sv and C57BL/6 mice: effect on cholesterol responsiveness.Phenotypic characterization of Lith genes that determine susceptibility to cholesterol cholelithiasis in inbred mice: integrated activities of hepatic lipid regulatory enzymes.Quantitative trait loci analysis for the differences in susceptibility to atherosclerosis and diabetes between inbred mouse strains C57BL/6J and C57BLKS/J.A locus conferring resistance to diet-induced hypercholesterolemia and atherosclerosis on mouse chromosome 2.Variability of the intestinal uptake of lipids is genetically determined in mice.Dietary free and esterified cholesterol absorption in cholesterol esterase (bile salt-stimulated lipase) gene-targeted mice.Resistance to diet-induced hypercholesterolemia and gallstone formation in ACAT2-deficient mice.Role of acyl CoA:cholesterol acyltransferase in cholesterol absorption and its inhibition by 57-118 in the rabbit.Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity.Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).Apolipoprotein E regulates dietary cholesterol absorption and biliary cholesterol excretion: studies in C57BL/6 apolipoprotein E knockout mice.Charting the fate of the ‘good cholesterol’: identification and characterization of the high-density lipoprotein receptor SR-BI.Identification of a receptor mediating absorption of dietary cholesterol in the intestine.Intestinal sterol absorption mediated by scavenger receptors is competitively inhibited by amphipathic peptides and proteins.Hepatic cholesterol and bile acid metabolism and intestinal cholesterol absorption in scavenger receptor class B type I-deficient mice.Overexpression of the HDL receptor SR-BI alters plasma HDL and bile cholesterol levels.Biliary cholesterol excretion: a novel mechanism that regulates dietary cholesterol absorption.High density lipoproteins, but not other lipoproteins, provide a vehicle for sterol transport to bile.Delineation of a novel hepatic route for the selective transfer of unesterified sterols from high-density lipoproteins to bile: studies using the perfused rat liver.Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 [see comments].The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease [see comments].Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers.High density lipoprotein and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1.ATP-binding cassette transporter A1 (ABCA1) affects total body sterol metabolism.Marked reduction in bile acid synthesis in cholesterol 7alpha- hydroxylase-deficient mice does not lead to diminished tissue cholesterol turnover or to hypercholesterolemia.Localization of human ATP-binding cassette transporter 1 (ABC1) in normal and atherosclerotic tissues.Mechanisms of biliary lipid secretion and their role in lipid homeostasis.Metabolism of bile acids: III.