Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis - a proteomic study

Vorum, Henrik, Ostergaard, Morton, Rice, Greg E., Honore, Bent and Bek, Toke (2007) Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis - a proteomic study. Proteome Science, 5 5-1-5-9. doi:10.1186/1477-5956-5-5


Author Vorum, Henrik
Ostergaard, Morton
Rice, Greg E.
Honore, Bent
Bek, Toke
Title Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis - a proteomic study
Journal name Proteome Science   Check publisher's open access policy
ISSN 1477-5956
Publication date 2007-02-01
Sub-type Article (original research)
DOI 10.1186/1477-5956-5-5
Open Access Status DOI
Volume 5
Start page 5-1
End page 5-9
Total pages 9
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted 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: αA-crystallin, triosephophate isomerase, and an N-terminal fragment of the β-chain of ATP synthase. One protein spot that was down-regulated in the LCA retina was identified as a C-terminal fragment of β-tubulin.

Conclusion

Retinal tissue in LCA is characterised by an up-regulation of αA-crystallin, triosephosphate isomerase, and ATP synthase (β-chain fragment) and down-regulation of a fragment of β-tubulin. These proteins/protein fragments may play a crucial role for the retinal degeneration processes in LCA and other retinal dystrophies.
Keyword Severe Retinal Dystrophy
Alpha-Crystallin
Mutations
Gene
Expression
Locus
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Centre for Clinical Research Publications
 
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