NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24

Biochem Biophys Res Commun. 2005 Jul 15;332(4):982-92. doi: 10.1016/j.bbrc.2005.05.050.

Abstract

Hereditary Motor and Sensory Neuropathy Lom (HMSNL) is a severe autosomal recessive peripheral neuropathy, the most common form of demyelinating Charcot-Marie-Tooth (CMT) disease in the Roma (Gypsy) population. The mutated gene, N-myc downstream-regulated gene 1 (NDRG1), is widely expressed and has been implicated in a range of processes and pathways. To gain an insight into NDRG1 function we performed yeast two-hybrid screening and identified interacting proteins whose known functions suggest involvement in cellular trafficking. Further analyses, focusing on apolipoproteins A-I and A-II, confirmed their interaction with NDRG1 in mammalian cells and suggest a defect in Schwann cell lipid trafficking as a major pathogenetic mechanism in HMSNL. At the same time, the chromosomal location of NDRG1 coincides with a reported HDL-C QTL in humans and in mice. A putative role of NDRG1 in the general mechanisms of HDL-mediated cholesterol transport was supported by biochemical studies of blood lipids, which revealed an association between the Gypsy founder mutation, R148X, and decreased HDL-C levels.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apolipoprotein A-I / metabolism*
  • Apolipoprotein A-II / metabolism*
  • COS Cells
  • Cell Cycle Proteins
  • Cell Line
  • Charcot-Marie-Tooth Disease / metabolism
  • Cholesterol / metabolism
  • Cholesterol, HDL / metabolism
  • Chromosomes, Human, Pair 8*
  • DNA, Complementary / metabolism
  • Energy Transfer
  • Founder Effect
  • Gene Library
  • Genotype
  • Humans
  • Immunohistochemistry
  • Intracellular Signaling Peptides and Proteins
  • Lipid Metabolism
  • Lipoproteins, HDL / metabolism
  • Mice
  • Microscopy, Fluorescence
  • Models, Genetic
  • Mutation
  • Protein Binding
  • Proteins / chemistry
  • Proteins / genetics*
  • Proteins / metabolism*
  • Quantitative Trait Loci*
  • Schwann Cells / metabolism
  • Sciatic Nerve / metabolism
  • Transfection
  • Two-Hybrid System Techniques

Substances

  • Apolipoprotein A-I
  • Apolipoprotein A-II
  • Cell Cycle Proteins
  • Cholesterol, HDL
  • DNA, Complementary
  • Intracellular Signaling Peptides and Proteins
  • Lipoproteins, HDL
  • N-myc downstream-regulated gene 1 protein
  • Proteins
  • Cholesterol