Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice

J Neurosci. 2006 Nov 15;26(46):11903-14. doi: 10.1523/JNEUROSCI.3020-06.2006.

Abstract

We developed a genetic mouse model of open-angle glaucoma by expression of mutated mouse myocilin (Myoc) in transgenic (Tg) mice. The Tyr423His point mutation, corresponding to the severe glaucoma-causing Tyr437His mutation in the human MYOC gene, was introduced into bacterial artificial chromosome DNA encoding the full-length mouse Myoc gene and long flanking regions. Both wild-type (Wt) and Tg animals expressed Myoc in tissues of the irido-corneal angle and the sclera. Expression of mutated Myoc induced the accumulation of Myoc in cell cytoplasm and prevented its secretion into the extracellular space. The levels of ATPase-1 were reduced in the irido-corneal angle of Tg mice compared with Wt animals. Tg mice demonstrated a moderate elevation of intraocular pressure, the loss of approximately 20% of the retinal ganglion cells (RGCs) in the peripheral retina, and axonal degeneration in the optic nerve. RGC depletion was associated with the shrinkage of their nuclei and DNA fragmentation in the peripheral retina. Pathological changes observed in the eyes of Tg mice are similar to those observed in glaucoma patients.

MeSH terms

  • Adenosine Triphosphatases / metabolism
  • Animals
  • Cornea / metabolism
  • Cornea / physiopathology
  • Cytoplasm / metabolism
  • Cytoskeletal Proteins / genetics*
  • DNA Fragmentation
  • Disease Models, Animal
  • Epithelial Cells / metabolism
  • Epithelial Cells / pathology
  • Eye / metabolism*
  • Eye / physiopathology
  • Eye Proteins / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Glaucoma, Open-Angle / genetics*
  • Glaucoma, Open-Angle / metabolism
  • Glaucoma, Open-Angle / physiopathology
  • Glycoproteins / genetics*
  • Iris / metabolism
  • Iris / physiopathology
  • Mice
  • Mice, Transgenic
  • Optic Nerve / pathology
  • Optic Nerve / physiopathology
  • Point Mutation / genetics*
  • Retinal Degeneration / etiology
  • Retinal Degeneration / physiopathology
  • Retinal Ganglion Cells / pathology

Substances

  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein
  • Adenosine Triphosphatases