Genetic dissection of oligodendroglial and neuronal Plp1 function in a novel mouse model of spastic paraplegia type 2

Glia. 2017 Nov;65(11):1762-1776. doi: 10.1002/glia.23193. Epub 2017 Aug 24.

Abstract

Proteolipid protein (PLP) is the most abundant integral membrane protein in compact central nervous system myelin, and null mutations of the PLP1 gene cause spastic paraplegia type 2 (SPG2). SPG2 patients and PLP-deficient mice exhibit only moderate abnormalities of myelin but progressive degeneration of long axons. Since Plp1 gene products are detected in a subset of neurons it has been suggested that the loss of neuronal Plp1 expression could be the cause of the axonal pathology. To test this hypothesis, we created mice with a floxed Plp1 allele for selective Cre-mediated recombination in neurons. We find that recombination of Plp1 in excitatory projection neurons does not cause neuropathology, whereas oligodendroglial targeting of Plp1 is sufficient to cause the entire neurodegenerative spectrum of SPG2 including axonopathy and secondary neuroinflammation. We conclude that PLP-dependent loss of oligodendroglial support is the primary cause of axonal degeneration in SPG2.

Keywords: FA2H; GJC2/CX47; axonopathy; glia-axonal support; hereditary spastic paraplegia type 2 (SPG2); myelin; neurodegeneration; neuroinflammation; oligodendrocyte; proteolipid protein (PLP).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase / genetics
  • 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase / metabolism
  • Age Factors
  • Amyloid beta-Protein Precursor / metabolism
  • Animals
  • Antigens, CD / metabolism
  • Axons / metabolism
  • Axons / pathology
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Corpus Callosum / pathology
  • Disease Models, Animal
  • Female
  • Gene Expression Regulation / genetics
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Myelin Proteolipid Protein / deficiency*
  • Myelin Proteolipid Protein / genetics
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Neurons / metabolism*
  • Oligodendroglia / metabolism*
  • Ribosomal Proteins / genetics
  • Ribosomal Proteins / metabolism
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology*

Substances

  • Amyloid beta-Protein Precursor
  • Antigens, CD
  • Basic Helix-Loop-Helix Transcription Factors
  • Myelin Proteolipid Protein
  • Nerve Tissue Proteins
  • Neurod6 protein, mouse
  • Plp1 protein, mouse
  • Ribosomal Proteins
  • 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase
  • Cnp protein, mouse