title: Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.
abstract: The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced preclinical atherosclerosis in carriers, despite the remarkably low HDL cholesterol.
authors.affiliation: Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, Via Balzaretti 9, 20133 Milano, Italy. laura.calabresi@unimi.it
authors.forename: Laura
authors.initials: L
authors.lastname: Calabresi
authors.forename: Sara
authors.initials: S
authors.lastname: Simonelli
authors.forename: Monica
authors.initials: M
authors.lastname: Gomaraschi
authors.forename: Guido
authors.initials: G
authors.lastname: Franceschini
mesh_terms: D000328:Adult; D000818:Animals; D002318:Cardiovascular Diseases / Q000097:blood / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D002788:Cholesterol Esters / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D052456:Hypoalphalipoproteinemias / Q000097:blood / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D002788:Cholesterol Esters; D008076:Cholesterol, HDL; D007862:Phosphatidylcholine-Sterol O-Acyltransferase