Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia

Aniridia is a rare congenital genetic disorder caused by haploinsuffiency of the PAX6 gene, the master gene for development of the eye. The expression of tear proteins in aniridia is unknown. To screen for proteins involved in the aniridia pathophysiology, the tear fluid of patients with diagnosed c...

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Bibliographic Details
Published in:Journal of proteomics 2013-12, Vol.94, p.78-88
Main Authors: Ihnatko, Robert, Edén, Ulla, Lagali, Neil, Dellby, Anette, Fagerholm, Per
Format: Article
Language:English
Subjects:
Aniridia
apolipoprotein A-I
blood
cornea
gene expression regulation
genes
genetic disorders
Keratopathy
lactoferrin
LC–MS/MS
lymph
mass spectrometry
MEDICIN
MEDICINE
pathophysiology
patients
peroxiredoxin
protein composition
protein synthesis
Tear fluid
tears
therapeutics
Two-dimensional electrophoresis
two-dimensional gel electrophoresis
vascular endothelial growth factors
vision
α-Enolase
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Summary:Aniridia is a rare congenital genetic disorder caused by haploinsuffiency of the PAX6 gene, the master gene for development of the eye. The expression of tear proteins in aniridia is unknown. To screen for proteins involved in the aniridia pathophysiology, the tear fluid of patients with diagnosed congenital aniridia was examined using two-dimensional electrophoresis (2-DE) and liquid chromatography–tandem mass spectrometry (LC–MS/MS). Two-dimensional map of tear proteins in aniridia has been established and 7 proteins were differentially expressed with P
ISSN:1874-3919
1876-7737
DOI:10.1016/j.jprot.2013.09.003