Protein profiling of conjunctival impression cytology samples of aniridia subjects

Purpose Congenital aniridia is a rare disease, which is in most cases related to PAX6 haploinsufficiency. Aniridia associated keratopathy (AAK) also belongs to ocular signs of congenital aniridia. In AAK, there is corneal epithelial thinning, corneal inflammation, vascularization and scarring. In ad...

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Veröffentlicht in:Acta ophthalmologica (Oxford, England) Jg. 102; H. 4; S. e635 - e645
Hauptverfasser: Stachon, Tanja, Fecher‐Trost, Claudia, Latta, Lorenz, Yapar, Dalya, Fries, Fabian N., Meyer, Markus R., Käsmann‐Kellner, Barbara, Seitz, Berthold, Szentmáry, Nóra
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Wiley Subscription Services, Inc 01.06.2024
Schlagworte:
Adolescent
Adult
Aniridia
Aniridia - diagnosis
Aniridia - genetics
Aniridia - metabolism
Apoptosis
Biosynthesis
Cellular biology
congenital aniridia
conjunctiva
Conjunctiva - metabolism
Conjunctiva - pathology
Cornea
Cytodiagnosis
Cytology
Epithelial cells
Epithelium
Eye Proteins - genetics
Eye Proteins - metabolism
Female
Haploinsufficiency
Humans
Lipid metabolism
Male
Mass Spectrometry
Mass spectroscopy
Metabolism
Middle Aged
Pax6 protein
Proteins
Proteomics
Proteomics - methods
Retinoic acid
Signal transduction
Therapeutic targets
Vascularization
Vitamin A
Young Adult
proteomics
congenital aniridia
conjunctiva
ISSN:1755-375X, 1755-3768, 1755-3768
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Zusammenfassung:Purpose Congenital aniridia is a rare disease, which is in most cases related to PAX6 haploinsufficiency. Aniridia associated keratopathy (AAK) also belongs to ocular signs of congenital aniridia. In AAK, there is corneal epithelial thinning, corneal inflammation, vascularization and scarring. In advanced stage AAK, typically, conjunctival epithelial cells slowly replace the corneal epithelium. Based on previous results we hypothesize that alterations of the conjunctival cells in congenital aniridia may also support the corneal conjunctivalization process. The aim of this study was to identify deregulated proteins in conjunctival impression cytology samples of congenital aniridia subjects. Methods Conjunctival impression cytology samples of eight patients with congenital aniridia [age 34.5 ± 9.9 (17–51) years, 50% female] and eight healthy subjects [age 34.1 ± 11.9 (15–54) years, 50% female] were collected and analysed using mass spectrometry. Proteomic profiles were analysed in terms of molecular functions, biological processes, cellular components and pathway enrichment using the protein annotation of the evolutionary relationship (PANTHER) classification system. Results In total, 3323 proteins could be verified and there were 127 deregulated proteins (p < 0.01) in congenital aniridia. From the 127 deregulated proteins (DEPs), 82 altered biological processes, 63 deregulated cellular components, 27 significantly altered molecular functions and 31 enriched signalling pathways were identified. Pathological alteration of the biological processes and molecular functions of retinol binding and retinoic acid biosynthesis, as well as lipid metabolism and apoptosis related pathways could be demonstrated. Conclusions Protein profile of conjunctival impression cytology samples of aniridia subjects identifies alterations of retinol binding, retinoic acid biosynthesis, lipid metabolism and apoptosis related pathways. Whether these changes are directly related to PAX6 haploinsufficiency, must be investigated in further studies. These new findings offer the possibility to identify potential new drug targets.
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ISSN:1755-375X
1755-3768
1755-3768
DOI:10.1111/aos.16614