Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy.
Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2017-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC5383226?pdf=render |
| _version_ | 1818925228055592960 |
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| author | Emily Khuc Russell Bainer Marie Wolf Selene M Clay Daniel J Weisenberger Jacquelyn Kemmer Valerie M Weaver David G Hwang Matilda F Chan |
| author_facet | Emily Khuc Russell Bainer Marie Wolf Selene M Clay Daniel J Weisenberger Jacquelyn Kemmer Valerie M Weaver David G Hwang Matilda F Chan |
| author_sort | Emily Khuc |
| collection | DOAJ |
| description | Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. Epigenetic modifications that occur in FECD are unknown. Here, we report on and compare the DNA methylation landscape of normal human corneal endothelial (CE) tissue and CE from FECD patients using the Illumina Infinium HumanMethylation450 (HM450) DNA methylation array. We show that DNA methylation profiles are distinct between control and FECD samples. Differentially methylated probes (10,961) were identified in the FECD samples compared with the control samples, with the majority of probes being hypermethylated in the FECD samples. Genes containing differentially methylated sites were disproportionately annotated to ontological categories involving cytoskeletal organization, ion transport, hematopoetic cell differentiation, and cellular metabolism. Our results suggest that altered DNA methylation patterns may contribute to loss of corneal transparency in FECD through a global accumulation of sporadic DNA methylation changes in genes critical to basic CE biological processes. |
| first_indexed | 2024-12-20T02:37:53Z |
| format | Article |
| id | doaj.art-f6072ee70fcd46a09566709fcc75aa1e |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-20T02:37:53Z |
| publishDate | 2017-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-f6072ee70fcd46a09566709fcc75aa1e2022-12-21T19:56:23ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01124e017511210.1371/journal.pone.0175112Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy.Emily KhucRussell BainerMarie WolfSelene M ClayDaniel J WeisenbergerJacquelyn KemmerValerie M WeaverDavid G HwangMatilda F ChanTransparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. Epigenetic modifications that occur in FECD are unknown. Here, we report on and compare the DNA methylation landscape of normal human corneal endothelial (CE) tissue and CE from FECD patients using the Illumina Infinium HumanMethylation450 (HM450) DNA methylation array. We show that DNA methylation profiles are distinct between control and FECD samples. Differentially methylated probes (10,961) were identified in the FECD samples compared with the control samples, with the majority of probes being hypermethylated in the FECD samples. Genes containing differentially methylated sites were disproportionately annotated to ontological categories involving cytoskeletal organization, ion transport, hematopoetic cell differentiation, and cellular metabolism. Our results suggest that altered DNA methylation patterns may contribute to loss of corneal transparency in FECD through a global accumulation of sporadic DNA methylation changes in genes critical to basic CE biological processes.http://europepmc.org/articles/PMC5383226?pdf=render |
| spellingShingle | Emily Khuc Russell Bainer Marie Wolf Selene M Clay Daniel J Weisenberger Jacquelyn Kemmer Valerie M Weaver David G Hwang Matilda F Chan Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy. PLoS ONE |
| title | Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy. |
| title_full | Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy. |
| title_fullStr | Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy. |
| title_full_unstemmed | Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy. |
| title_short | Comprehensive characterization of DNA methylation changes in Fuchs endothelial corneal dystrophy. |
| title_sort | comprehensive characterization of dna methylation changes in fuchs endothelial corneal dystrophy |
| url | http://europepmc.org/articles/PMC5383226?pdf=render |
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