Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice

Nat Genet. 2000 Feb;24(2):192-6. doi: 10.1038/72869.

Abstract

Mutations in the gene encoding ATP-binding cassette transporter 1 ( ABC1) have been reported in Tangier disease (TD), an autosomal recessive disorder that is characterized by almost complete absence of plasma high-density lipoprotein (HDL), deposition of cholesteryl esters in the reticulo-endothelial system (RES) and aberrant cellular lipid trafficking. We demonstrate here that mice with a targeted inactivation of Abc1 display morphologic abnormalities and perturbations in their lipoprotein metabolism concordant with TD. ABC1 is expressed on the plasma membrane and the Golgi complex, mediates apo-AI associated export of cholesterol and phospholipids from the cell, and is regulated by cholesterol flux. Structural and functional abnormalities in caveolar processing and the trans-Golgi secretory pathway of cells lacking functional ABC1 indicate that lipid export processes involving vesicular budding between the Golgi and the plasma membrane are severely disturbed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism*
  • Animals
  • Apoptosis
  • Blood Platelets / metabolism
  • Cell Membrane / metabolism*
  • Cholesterol / blood
  • Cholesterol / metabolism
  • Cholesterol, HDL / blood
  • Fibroblasts / metabolism
  • Genotype
  • Glycoproteins / genetics*
  • Glycoproteins / metabolism*
  • Golgi Apparatus / metabolism*
  • Humans
  • Intestinal Mucosa / pathology
  • Intestinal Mucosa / ultrastructure
  • Intestine, Small / pathology
  • Lipid Metabolism*
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Phospholipids / metabolism
  • Tangier Disease / genetics*
  • Tangier Disease / metabolism*
  • Triglycerides / blood

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters
  • Cholesterol, HDL
  • Glycoproteins
  • Phospholipids
  • Triglycerides
  • Cholesterol

Associated data

  • GENBANK/AJ012376