Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

Nature. 1992 Aug 27;358(6389):758-61. doi: 10.1038/358758a0.

Abstract

Proteolipid protein (PLP; M(r) 30,000) is a highly conserved major polytopic membrane protein in myelin but its cellular function remains obscure. Neurological mutant mice can often provide model systems for human genetic disorders. Mutations of the X-chromosome-linked PLP gene are lethal, identified first in the jimpy mouse and subsequently in patients with Pelizaeus-Merzbacher disease. The unexplained phenotype of these mutations includes degeneration and premature cell death of oligodendrocytes with associated hypomyelination. Here we show that a new mouse mutant rumpshaker is defined by the amino-acid substitution Ile-to-Thr at residue 186 in a membrane-embedded domain of PLP. Surprisingly, rumpshaker mice, although myelin-deficient, have normal longevity and a full complement of morphologically normal oligodendrocytes. Hypomyelination can thus be genetically separated from the PLP-dependent oligodendrocyte degeneration. We suggest that PLP has a vital function in glial cell development, distinct from its later role in myelin assembly, and that this dichotomy of action may explain the clinical spectrum of Pelizaeus-Merzbacher disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Death
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / pathology
  • Diffuse Cerebral Sclerosis of Schilder / genetics
  • Membrane Proteins / genetics
  • Mice
  • Mice, Neurologic Mutants / anatomy & histology
  • Mice, Neurologic Mutants / genetics*
  • Molecular Sequence Data
  • Mutation
  • Myelin Proteins / genetics*
  • Myelin Proteolipid Protein
  • Neuroglia / pathology*
  • Structure-Activity Relationship

Substances

  • Membrane Proteins
  • Myelin Proteins
  • Myelin Proteolipid Protein