Identification and characterization of rod-derived cone viability factor

Nat Genet. 2004 Jul;36(7):755-9. doi: 10.1038/ng1386. Epub 2004 Jun 27.

Abstract

Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are essential for day and high-acuity vision. Their loss is indirect, as most genes associated with retinitis pigmentosa are not expressed by these cells. We previously showed that factors secreted from rods are essential for cone viability. Here we identified one such trophic factor by expression cloning and named it rod-derived cone viability factor (RdCVF). RdCVF is a truncated thioredoxin-like protein specifically expressed by photoreceptors. The identification of this protein offers new treatment possibilities for retinitis pigmentosa.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Blotting, Western
  • Cloning, Molecular
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • Retinitis Pigmentosa / metabolism*
  • Thioredoxins / chemistry*
  • Thioredoxins / genetics
  • Thioredoxins / metabolism

Substances

  • NXNL1 protein, human
  • RNA, Messenger
  • Thioredoxins