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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Autores principales: María Fernanda Suarez, José Echenique, Juan Manuel López, Esteban Medina, Mariano Irós, Horacio M. Serra, M. Elizabeth Fini
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Publicado: MDPI AG 2021
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spelling oai:doaj.org-article:23beb67f4bee4057b497081e78af4e662021-11-11T17:28:43ZTranscriptome Analysis of Pterygium and Pinguecula Reveals Evidence of Genomic Instability Associated with Chronic Inflammation10.3390/ijms2221120901422-00671661-6596https://doaj.org/article/23beb67f4bee4057b497081e78af4e662021-11-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/21/12090https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Solar 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.María Fernanda SuarezJosé EcheniqueJuan Manuel LópezEsteban MedinaMariano IrósHoracio M. SerraM. Elizabeth FiniMDPI AGarticleocular surface epitheliaconjunctivapingueculapterygiumgenomic instabilityinflammationBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 12090, p 12090 (2021)
institution DOAJ
collection DOAJ
language EN
topic ocular surface epithelia
conjunctiva
pinguecula
pterygium
genomic instability
inflammation
Biology (General)
QH301-705.5
Chemistry
QD1-999
spellingShingle ocular surface epithelia
conjunctiva
pinguecula
pterygium
genomic instability
inflammation
Biology (General)
QH301-705.5
Chemistry
QD1-999
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
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.
format article
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
title 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_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_sort transcriptome analysis of pterygium and pinguecula reveals evidence of genomic instability associated with chronic inflammation
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/23beb67f4bee4057b497081e78af4e66
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