AJP - Endocrinology and Metabolism, Vol 243, Issue 1 5-14, Copyright © 1982 by American Physiological Society
Mutations that affect membrane receptor for LDL are useful for studying normal receptor function
R. G. Anderson
Low-density lipoprotein (LDL), the major plasma cholesterol transport
protein, is taken up by cells through a receptor-mediated process. After
internalization through specialized segments of the cell surface called
coated pits, the LDL is degraded in the lysosome and the released
cholesterol is used by cells to meet various metabolic needs. The discovery
of the LDL receptor and the studies of its function have provided new
insights into both the biochemical aspects of cholesterol metabolism and
the cell biology of receptor-mediated endocytosis. Of paramount importance
in all of these studies has been the availability of human cells that
express one or more allelic mutations that affect the function of the LDL
receptor. These mutations have been valuable for assessing normal receptor
function. Just as important, these mutations have been used as a reference
point in the development of various cytochemical and biochemical techniques
for studying receptor activity.
