دورية أكاديمية
أعرض في EDS

Protein profiling of conjunctival impression cytology samples of aniridia subjects.

التفاصيل البيبلوغرافية
العنوان: Protein profiling of conjunctival impression cytology samples of aniridia subjects.
المؤلفون: Stachon T; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany., Fecher-Trost C; Department of Experimental and Clinical Toxicology, Institute of Experimental and Clinical Pharmacology and Toxicology, Center for Molecular Signaling (PZMS), Saarland University, Homburg, Germany., Latta L; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany., Yapar D; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany., Fries FN; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Meyer MR; Department of Experimental and Clinical Toxicology, Institute of Experimental and Clinical Pharmacology and Toxicology, Center for Molecular Signaling (PZMS), Saarland University, Homburg, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany., Szentmáry N; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Aniridia Research, Homburg/Saar, Germany.
المصدر: Acta ophthalmologica [Acta Ophthalmol] 2024 Jun; Vol. 102 (4), pp. e635-e645. Date of Electronic Publication: 2023 Dec 21.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE
أسماء مطبوعة: Publication: Oxford, UK : Wiley-Blackwell
Original Publication: Oxford, UK ; Malden, MA : Blackwell Munksgaard
مواضيع طبية MeSH: Aniridia*/genetics , Aniridia*/metabolism , Aniridia*/diagnosis , Conjunctiva*/metabolism , Conjunctiva*/pathology, Humans ; Female ; Adult ; Male ; Adolescent ; Young Adult ; Middle Aged ; Proteomics/methods ; Mass Spectrometry ; Eye Proteins/metabolism ; Eye Proteins/genetics ; Cytology
مستخلص: 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.
(© 2023 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)
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معلومات مُعتمدة: FF2021 DOG Sektion Kornea
فهرسة مساهمة: Keywords: congenital aniridia; conjunctiva; proteomics
المشرفين على المادة: 0 (Eye Proteins)
تواريخ الأحداث: Date Created: 20231222 Date Completed: 20240426 Latest Revision: 20240429
رمز التحديث: 20240430
DOI: 10.1111/aos.16614
PMID: 38130099
قاعدة البيانات: MEDLINE
الوصف
تدمد:1755-3768
DOI:10.1111/aos.16614