title: Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis--a proteomic study.
abstract: BACKGROUND
  To identify the pattern of protein expression in the retina from a patient with Leber's Congenital Amaurosis (LCA) secondary to a mutation in the AIPL1 gene. The retina from one eye of a patient with LCA and 7 control eyes were studied. The tissue was subjected to high resolution two-dimensional gel electrophoresis, image analysis and mass spectrometry, in an effort to identify differentially regulated proteins.
  
  
  RESULTS
  In the LCA retina seven protein spots were differentially expressed. Six proteins were significantly up-regulated of which three could be identified as: alphaA-crystallin, triosephophate isomerase, and an N-terminal fragment of the beta-chain of ATP synthase. One protein spot that was down-regulated in the LCA retina was identified as a C-terminal fragment of beta-tubulin.
  
  
  CONCLUSIONS
  Retinal tissue in LCA is characterised by an up-regulation of alphaA-crystallin, triosephosphate isomerase, and ATP synthase (beta-chain fragment) and down-regulation of a fragment of beta-tubulin. These proteins/protein fragments may play a crucial role for the retinal degeneration processes in LCA and other retinal dystrophies.
authors.affiliation: Department of Ophthalmology, Aarhus University Hospital, Nørrebrogade 44, DK-8000 Aarhus C, Denmark. hv@biokemi.au.dk
authors.forename: Henrik
authors.initials: H
authors.lastname: Vorum
authors.forename: Morten
authors.initials: M
authors.lastname: Østergaard
authors.forename: Greg E
authors.initials: GE
authors.lastname: Rice
authors.forename: Bent
authors.initials: B
authors.lastname: Honoré
authors.forename: Toke
authors.initials: T
authors.lastname: Bek