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Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia
Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. Linköping University, Faculty of Health Sciences.ORCID iD: 0000-0001-5751-3622
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuroscience. Linköping University, Faculty of Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Neuroscience. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Anaesthetics, Operations and Specialty Surgery Center, Department of Ophthalmology in Linköping.
Linköping University, Department of Clinical and Experimental Medicine, Ophthalmology. Linköping University, Faculty of Health Sciences.
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2013 (English)In: Journal of Proteomics, ISSN 1874-3919, E-ISSN 1876-7737, Vol. 94, 78-88 p.Article in journal (Refereed) Published
Abstract [en]

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 less than 0.01 between aniridia patients and control subjects. Five of them were more abundant in healthy subjects, particularly alpha-enolase, peroxiredoxin 6, cystatin S, gelsolin, apolipoprotein A-1 and two other proteins, zinc-alpha 2-glycoprotein and lactoferrin were more expressed in the tears of aniridia patients. Moreover, immunoblot analysis revealed elevated levels of vascular endothelial growth factor (VEGF) in aniridia tears which is in concordance with clinical finding of pathological blood and lymph vessels in the central and peripheral cornea of aniridia patients. The proteins with different expression in patients tears may be new candidate molecules involved in the pathophysiology of aniridia and thus may be helpful for development of novel treatment strategies for the symptomatic therapy of this vision threatening condition. Biological significance This study is first to demonstrate protein composition and protein expression in aniridic tears and identifies proteins with different abundance in tear fluid from patients with congenital aniridia vs. healthy tears.

Place, publisher, year, edition, pages
Elsevier , 2013. Vol. 94, 78-88 p.
Keyword [en]
Aniridia; Keratopathy; Tear fluid; Two-dimensional electrophoresis; LC-MS/MS; alpha-Enolase
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-104841DOI: 10.1016/j.jprot.2013.09.003ISI: 000330493400006OAI: oai:DiVA.org:liu-104841DiVA: diva2:699605
Available from: 2014-02-28 Created: 2014-02-28 Last updated: 2017-12-05

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Ihnatko, RobertEdén, UllaLagali, NeilFagerholm, Per

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Ihnatko, RobertEdén, UllaLagali, NeilFagerholm, Per
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Division of Microbiology and Molecular MedicineFaculty of Health SciencesDivision of NeuroscienceDepartment of Ophthalmology in LinköpingOphthalmology
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Journal of Proteomics
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