[Genetic background of the efficacy of cholesterol absorption. The role of Niemann-Pick C1-like 1 receptor and its genetic variations in lipid metabolism]. / A koleszterinfelszívódás hatékonyságának genetikai háttere. A Niemann-Pick C1-like-1 receptor és génvariációinak szerepe a lipidanyagcserében.

ABSTRACT

Niemann-Pick C1-like 1 is a sterol sensing domain-containing transmembrane protein that is highly expressed on the apical surface of absorptive enterocytes. Previous studies proved that this protein facilitates the movement of free cholesterol from the gut lumen into enterocytes. Biochemical studies showed that Niemann-Pick C1-like 1 is the target of ezetimibe, a potent cholesterol absorption inhibitor. Recent studies show that genetic variation in Niemann-Pick C1-like 1 may be responsible for the inter-individual variability observed in the rates of intestinal cholesterol absorption and the response to ezetimibe.