A transgenic rat model of Charcot-Marie-Tooth disease

Neuron. 1996 May;16(5):1049-60. doi: 10.1016/s0896-6273(00)80128-2.

Abstract

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A). We have generated a transgenic rat model of this disease and provide experimental evidence that CMT1A is caused by increased expression of the gene for peripheral myelin protein-22 (PMP22, gas-3). PMP22-transgenic rats develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness. Reduced nerve conduction velocities closely resemble recordings in human patients with CMT1A. When bred to homozygosity, transgenic animals completely fail to elaborate myelin. We anticipate that the CMT rat model will facilitate the identification of a cellular disease mechanism and serve in the evaluation of potential treatment strategies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • DNA Primers / chemistry
  • Demyelinating Diseases / genetics
  • Disease Models, Animal
  • Gene Expression
  • Homozygote
  • Humans
  • Molecular Sequence Data
  • Myelin Proteins / genetics*
  • Neural Conduction
  • Rats
  • Schwann Cells / cytology

Substances

  • DNA Primers
  • Myelin Proteins
  • PMP22 protein, human
  • Pmp22 protein, rat