The progress of genetics of cholesterol metabolism disorder and its related diseases

Cholesterol is an essential lipid with many physiological functions.Cholesterol concentration is too high or too low both are harmful to human body.High level of cholesterol is called hypercholesterolemia which is a major risk factor for atherosclerosis,stroke and heart disease.The humans obtain cholesterol through de novo synthesis from acetyl-Co A and intestinal absorption from food.In developing societies,excessive cholesterol absorption is an important reason of hypercholesterolemia.Intestinal cholesterol absorption is a sophisticated process including hydrolysis,transport and re-esterification.Niemann-Pick C1 Like 1( NPC1L1) facilitates cholesterol entering enterocytes that is the rate-limiting step.This review summarizes cholesterol metabolism disorder related diseases,the molecular pathway and regulation of intestinal cholesterol absorption,and development of cholesterol absorption inhibitors.