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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Main Authors: María Fernanda Suarez, José Echenique, Juan Manuel López, Esteban Medina, Mariano Irós, Horacio M. Serra, M. Elizabeth Fini
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/22/21/12090
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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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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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