Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans

Proc Assoc Am Physicians. Nov-Dec 1998;110(6):521-30.

Abstract

Several human diseases are characterized by defects in the synthesis and secretion of the apolipoprotein (apo) B-containing lipoproteins. Familial hypobetalipoproteinemia is caused by mutations in the apo-B gene and is characterized by abnormally low plasma concentrations of apo-B and low-density lipoprotein (LDL) cholesterol. Another apo-B deficiency syndrome, abetalipoproteinemia, is caused by mutations in the gene for microsomal triglyceride transfer protein (MTP). MTP is a microsomal protein that is thought to transfer lipids to the apo-B protein as it is translated, allowing it to attain the proper conformation for lipoprotein assembly. A third apo-B deficiency syndrome, Anderson's disease (or chylomicron retention disease), is characterized by the inability to secrete apo-B-containing chylomicrons from the intestine but an apparently normal capacity to secrete lipoproteins from the liver. To more fully understand these human apo-B deficiency syndromes, our laboratory has generated and characterized gene-targeted mouse models. This review summarizes what has been learned from these animal models.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abetalipoproteinemia / genetics
  • Animals
  • Apolipoproteins B / deficiency*
  • Apolipoproteins B / genetics*
  • Disease Models, Animal
  • Genetic Diseases, Inborn / genetics
  • Genetic Engineering
  • Humans
  • Hypobetalipoproteinemias / genetics
  • Mice
  • Syndrome

Substances

  • Apolipoproteins B