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| Status |
Public on Jun 05, 2020 |
| Title |
Conjunctival mRNA and miRNA expression profiles in congenital aniridia are genotype and phenotype dependent (AKK mRNA) |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Purpose:
To evaluate conjunctival cell microRNA and mRNA expression in relation to observed phenotype and genotype of aniridia-associated keratopathy (AAK) in a cohort of subjects with congenital aniridia.
Methods:
Using impression cytology, bulbar conjunctival cells were sampled from 20 subjects with congenital aniridia and 20 age and sex-matched healthy control subjects. RNA was extracted and microRNA and mRNA analysis was performed using microarrays. Results were related to the presence and severity of AAK determined by a standardized clinical grading scale and to the genotype (PAX6 mutation?) determined by clinical genetics.
Results:
Of the 2549 microRNAs analyzed, 21 were differentially expressed relative to controls. Among these miR-204-5p, an inhibitor of corneal neovascularization, was downregulated 26.8-fold, while miR-5787 and miR-224-5p were upregulated 2.8 and 2.4-fold relative to controls, respectively. At the mRNA level, 539 transcripts were differentially expressed, among these FOSB and FOS were upregulated 17.5 and 9.7-fold respectively, and JUN by 2.9-fold, all components of the AP-1 transcription factor complex. Pathway analysis revealed dysregulation of several enriched pathways including PI3K-Akt, MAPK, and Ras signaling pathways in aniridia. For several microRNAs and transcripts, expression levels aligned with AAK severity, while in very mild cases with missense or non-PAX6 coding mutations, gene expression was only minimally altered.
Conclusion:
In aniridia, specific factors and pathways are strongly dysregulated in conjunctival cells, suggesting that the conjunctiva in aniridia is abnormally maintained in a pro-angiogenic and proliferative state, promoting the aggressivity of AAK in a mutation-dependent manner. Transcriptional profiling of conjunctival cells at the microRNA and mRNA levels presents a powerful, minimally-invasive means to assess the regulation of cell dysfunction at the ocular surface.
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| Overall design |
MiRNA and mRNA expression profiles of conjunctival cells from 20 patients with aniridia associated keratopathy compared to controls
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| Contributor(s) |
Ludwig N, Latta L |
| Citation(s) |
32422284 |
| Submission date |
Sep 25, 2019 |
| Last update date |
Jun 07, 2020 |
| Contact name |
Nicole Ludwig |
| E-mail(s) |
n.ludwig@mx.uni-saarland.de
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| Phone |
004968411626269
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| Organization name |
Saarland University
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| Department |
Human Genetics
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| Street address |
Kirrberger Strasse
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| City |
Homburg |
| ZIP/Postal code |
66421 |
| Country |
Germany |
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| Platforms (1) |
| GPL21185 |
Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version] |
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| Samples (40)
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| This SubSeries is part of SuperSeries: |
| GSE137997 |
Conjunctival mRNA and miRNA expression profiles in congenital aniridia are genotype and phenotype dependent |
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| Relations |
| BioProject |
PRJNA574127 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE137996_RAW.tar |
494.1 Mb |
(http)(custom) |
TAR (of TXT) |
| Processed data included within Sample table |
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