Barral et al., "Primary deficiency of
microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function," The Journal of Clinical Investigation, vol.
Inhibition of
microsomal triglyceride transfer protein in familial hypercholesterolemia.
Those cholesterol-reducing drugs that followed statins were cholesteryl ester transporter protein (CETP) inhibitors, Niemann-Pick Cl-like 1 (NPC1L1) inhibitors,
microsomal triglyceride transfer protein (MTTP) inhibitors, and acyl-CoA cholesterol acyltransferase (ACAT) inhibitors.
Abetalipoproteinemia (ABL; OMIM 200100) is a very rare autosomal recessive disorder of lipoprotein metabolism in which sequence variations in the
microsomal triglyceride transfer protein (MTP) gene lead to virtually undetectable plasma concentrations of apoB-containing lipoproteins.
It is this domain with which
microsomal triglyceride transfer protein (MTP) binds during apoB assembly.
Hepatic and intestinal steatosis occur both in a-[beta]-lipoproteinemia (reflecting mutation of the
microsomal triglyceride transfer protein, which allows apo B to associate physically with triglycerides in the liver and gut) and in homozygous hypo-[beta]-lipoproteinemia when mutations truncate apo B early in its sequence (2).