Studio genetico della lecitina colesterolo aciltransferasi

Lecithin cholesterol acyltransferase(LCAT) is a monomeric glycoprotein of about 400 aminoacids,synthesized by hepatocytes,responsible for esterification of plasmatic cholesterol in human. The reaction requires the presence of two cofactors,apoA-1 and apoE,and occurs predominantly in HDL,to a lesser extent in LDL,circulating in the plasma at a concentration of 3.5 mcg/L and is not affected by diet,sex,age.The transformation of free cholesterol into cholesterol esters leads to the maturation of HDL which,small and discoidal,become large and spherical.The polymorphism of the gene coding for LCAT,located on chromosome 16 in the 16q22 region,determine two different pathologies:Familial LCAT Deficiency(FLD) and Fish-eye Disease(FED),which cause decreased cholesterol ester formation and insufficient HDL maturation,with consequent reduction of the latter levels and high triglyceride values.