Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey

Exp Eye Res. 2006 Nov;83(5):1303-6. doi: 10.1016/j.exer.2006.06.010. Epub 2006 Aug 22.

Abstract

Wolfram syndrome (WFS1, OMIM 222300) is a rare genetic disorder associated with multiple organ abnormalities, most prominently optic nerve atrophy and diabetes. Mutations in the WFS1 gene coding for wolframin have been identified. The pathogenesis for optic nerve atrophy remains elusive. We here tested the hypothesis that wolframin is expressed in glial cells of the optic nerve and in retinal ganglion cells in the cynomolgus monkey. Paraffin sections through the retina and optic nerve were examined with immunohistochemistry using affinity-purified antibodies to wolframin. Retinal ganglion cells and optic nerve glial cells were found to be strongly labeled. Dual dysfunction of wolframin in optic nerve glial cells and retinal ganglion cells may explain the progressive optic nerve atrophy in Wolfram syndrome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Eye Proteins / analysis*
  • Immunohistochemistry / methods
  • Macaca fascicularis
  • Male
  • Membrane Proteins / analysis*
  • Neuroglia / chemistry
  • Optic Atrophy / etiology
  • Optic Atrophy / metabolism
  • Optic Nerve / chemistry*
  • Retinal Ganglion Cells / chemistry*
  • Wolfram Syndrome / complications
  • Wolfram Syndrome / metabolism

Substances

  • Eye Proteins
  • Membrane Proteins
  • wolframin protein