Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases

Proc Natl Acad Sci U S A. 2002 Jul 23;99(15):9852-7. doi: 10.1073/pnas.152621799. Epub 2002 Jul 15.

Abstract

Schwann cell-derived peripheral myelin protein-22 (PMP-22) when mutated or overexpressed causes heritable neuropathies with a previously unexplained "gain-of-function" endoplasmic reticulum (ER) retention phenotype. In wild-type sciatic nerves, PMP-22 associates in a specific, transient (t(1/2 ) approximately equal to 11 min), and oligosaccharide processing-dependent manner with the lectin chaperone calnexin (CNX), but not calreticulin nor BiP. In Trembler-J (Tr-J) sciatic nerves, prolonged association of mutant PMP-22 with CNX is found (t(1/2) > 60 min). In 293A cells overexpressing PMP-22(Tr-J), CNX and PMP-22 colocalize in large intracellular structures identified at the electron microscopy level as myelin-like figures with CNX localization in the structures dependent on PMP-22 glucosylation. Similar intracellular myelin-like figures were also present in Schwann cells of sciatic nerves from homozygous Trembler-J mice with no detectable activation of the stress response pathway as deduced from BiP and CHOP expression. Sequestration of CNX in intracellular myelin-like figures may be relevant to the autosomal dominant Charcot-Marie-Tooth-related neuropathies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • COS Cells
  • Calcium-Binding Proteins / metabolism*
  • Calnexin
  • Cell Line
  • Chlorocebus aethiops
  • DNA Primers
  • HeLa Cells
  • Humans
  • Membrane Proteins / metabolism
  • Mice
  • Myelin Proteins / genetics
  • Myelin Proteins / metabolism*
  • Nervous System Diseases / genetics
  • Nervous System Diseases / physiopathology*
  • Polymerase Chain Reaction
  • Rats
  • Recombinant Fusion Proteins / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sciatic Nerve / physiology*

Substances

  • Calcium-Binding Proteins
  • DNA Primers
  • Membrane Proteins
  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, mouse
  • Pmp22 protein, rat
  • Recombinant Fusion Proteins
  • Calnexin