Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation
Solar damage due to ultraviolet radiation (UVR) is implicated in the development of two proliferative lesions of the ocular surface: pterygium and pinguecula. Pterygium and pinguecula specimens were collected, along with adjacent healthy conjunctiva specimens. RNA was extracted and sequenced. Pairwi...
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MDPI AG
2021-11-01
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author | María Fernanda Suarez José Echenique Juan Manuel López Esteban Medina Mariano Irós Horacio M. Serra M. Elizabeth Fini |
author_facet | María Fernanda Suarez José Echenique Juan Manuel López Esteban Medina Mariano Irós Horacio M. Serra M. Elizabeth Fini |
author_sort | María Fernanda Suarez |
collection | DOAJ |
description | Solar damage due to ultraviolet radiation (UVR) is implicated in the development of two proliferative lesions of the ocular surface: pterygium and pinguecula. Pterygium and pinguecula specimens were collected, along with adjacent healthy conjunctiva specimens. RNA was extracted and sequenced. Pairwise comparisons were made of differentially expressed genes (DEGs). Computational methods were used for analysis. Transcripts from 18,630 genes were identified. Comparison of two subgroups of pterygium specimens uncovered evidence of genomic instability associated with inflammation and the immune response; these changes were also observed in pinguecula, but to a lesser extent. Among the top DEGs were four genes encoding tumor suppressors that were downregulated in pterygium: <i>C10orf90</i>, <i>RARRES1</i>, <i>DMBT1</i> and <i>SCGB3A1</i>; <i>C10orf90</i> and <i>RARRES1</i> were also downregulated in pinguecula. Ingenuity Pathway Analysis overwhelmingly linked DEGs to cancer for both lesions; however, both lesions are clearly still benign, as evidenced by the expression of other genes indicating their well-differentiated and non-invasive character. Pathways for epithelial cell proliferation were identified that distinguish the two lesions, as well as genes encoding specific pathway components. Upregulated DEGs common to both lesions, including <i>KRT9</i> and <i>TRPV3</i>, provide a further insight into pathophysiology. Our findings suggest that pterygium and pinguecula, while benign lesions, are both on the pathological pathway towards neoplastic transformation. |
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issn | 1661-6596 1422-0067 |
language | English |
last_indexed | 2024-03-10T05:59:28Z |
publishDate | 2021-11-01 |
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series | International Journal of Molecular Sciences |
spelling | doaj.art-23beb67f4bee4057b497081e78af4e662023-11-22T21:02:44ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-11-0122211209010.3390/ijms222112090Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic InflammationMaría Fernanda Suarez0José Echenique1Juan Manuel López2Esteban Medina3Mariano Irós4Horacio M. Serra5M. Elizabeth Fini6New England Eye Center, Tufts Medical Center and Department of Ophthalmology, Tufts University School of Medicine, Boston, MA 02111, USACentro de Investigaciones en Bioquímica Clínica e Inmunología (CIBICI), Department of Clinical Biochemistry, Faculty of Chemistry, National University of Córdoba, Córdoba 5000, ArgentinaInstituto de Microcirugía Ocular Córdoba (IMOC), Córdoba 5000, ArgentinaInstituto de Microcirugía Ocular Córdoba (IMOC), Córdoba 5000, ArgentinaInstituto de Microcirugía Ocular Córdoba (IMOC), Córdoba 5000, ArgentinaCentro de Investigaciones en Bioquímica Clínica e Inmunología (CIBICI), Department of Clinical Biochemistry, Faculty of Chemistry, National University of Córdoba, Córdoba 5000, ArgentinaNew England Eye Center, Tufts Medical Center and Department of Ophthalmology, Tufts University School of Medicine, Boston, MA 02111, USASolar damage due to ultraviolet radiation (UVR) is implicated in the development of two proliferative lesions of the ocular surface: pterygium and pinguecula. Pterygium and pinguecula specimens were collected, along with adjacent healthy conjunctiva specimens. RNA was extracted and sequenced. Pairwise comparisons were made of differentially expressed genes (DEGs). Computational methods were used for analysis. Transcripts from 18,630 genes were identified. Comparison of two subgroups of pterygium specimens uncovered evidence of genomic instability associated with inflammation and the immune response; these changes were also observed in pinguecula, but to a lesser extent. Among the top DEGs were four genes encoding tumor suppressors that were downregulated in pterygium: <i>C10orf90</i>, <i>RARRES1</i>, <i>DMBT1</i> and <i>SCGB3A1</i>; <i>C10orf90</i> and <i>RARRES1</i> were also downregulated in pinguecula. Ingenuity Pathway Analysis overwhelmingly linked DEGs to cancer for both lesions; however, both lesions are clearly still benign, as evidenced by the expression of other genes indicating their well-differentiated and non-invasive character. Pathways for epithelial cell proliferation were identified that distinguish the two lesions, as well as genes encoding specific pathway components. Upregulated DEGs common to both lesions, including <i>KRT9</i> and <i>TRPV3</i>, provide a further insight into pathophysiology. Our findings suggest that pterygium and pinguecula, while benign lesions, are both on the pathological pathway towards neoplastic transformation.https://www.mdpi.com/1422-0067/22/21/12090ocular surface epitheliaconjunctivapingueculapterygiumgenomic instabilityinflammation |
spellingShingle | María Fernanda Suarez José Echenique Juan Manuel López Esteban Medina Mariano Irós Horacio M. Serra M. Elizabeth Fini Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation International Journal of Molecular Sciences ocular surface epithelia conjunctiva pinguecula pterygium genomic instability inflammation |
title | Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation |
title_full | Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation |
title_fullStr | Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation |
title_full_unstemmed | Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation |
title_short | Transcriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation |
title_sort | transcriptome analysis of pterygium and pinguecula reveals evidence of genomic instability associated with chronic inflammation |
topic | ocular surface epithelia conjunctiva pinguecula pterygium genomic instability inflammation |
url | https://www.mdpi.com/1422-0067/22/21/12090 |
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