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Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration
Normal-tension glaucoma is a form of optic nerve degeneration that is characterized by loss of retinal ganglion cells independent of eye pressure elevation. In this issue of the JCI, Pan et al. report the discovery in a Japanese family of a mutation in the METTL23 gene, which encodes a DNA methyltra...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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American Society for Clinical Investigation
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9621123/ https://www.ncbi.nlm.nih.gov/pubmed/36317630 http://dx.doi.org/10.1172/JCI163670 |
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author | Liu, Wendy W. Sun, Yang |
author_facet | Liu, Wendy W. Sun, Yang |
author_sort | Liu, Wendy W. |
collection | PubMed |
description | Normal-tension glaucoma is a form of optic nerve degeneration that is characterized by loss of retinal ganglion cells independent of eye pressure elevation. In this issue of the JCI, Pan et al. report the discovery in a Japanese family of a mutation in the METTL23 gene, which encodes a DNA methyltransferase that causes normal-pressure glaucoma in haploinsufficiency. Inherited as an autosomal dominant condition, METTL23 deficiency revealed an important function in the regulation of pS2 and the downstream NF-κB signaling pathway, which has previously been linked to glaucomatous optic nerve degeneration. These findings are the first direct link between defective epigenetic regulatory machinery and genetic forms of optic nerve degeneration. |
format | Online Article Text |
id | pubmed-9621123 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | American Society for Clinical Investigation |
record_format | MEDLINE/PubMed |
spelling | pubmed-96211232022-11-03 Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration Liu, Wendy W. Sun, Yang J Clin Invest Commentary Normal-tension glaucoma is a form of optic nerve degeneration that is characterized by loss of retinal ganglion cells independent of eye pressure elevation. In this issue of the JCI, Pan et al. report the discovery in a Japanese family of a mutation in the METTL23 gene, which encodes a DNA methyltransferase that causes normal-pressure glaucoma in haploinsufficiency. Inherited as an autosomal dominant condition, METTL23 deficiency revealed an important function in the regulation of pS2 and the downstream NF-κB signaling pathway, which has previously been linked to glaucomatous optic nerve degeneration. These findings are the first direct link between defective epigenetic regulatory machinery and genetic forms of optic nerve degeneration. American Society for Clinical Investigation 2022-11-01 /pmc/articles/PMC9621123/ /pubmed/36317630 http://dx.doi.org/10.1172/JCI163670 Text en © 2022 Sun1 et al. https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Commentary Liu, Wendy W. Sun, Yang Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration |
title | Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration |
title_full | Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration |
title_fullStr | Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration |
title_full_unstemmed | Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration |
title_short | Epigenetics in glaucoma: a link between DNA methylation and neurodegeneration |
title_sort | epigenetics in glaucoma: a link between dna methylation and neurodegeneration |
topic | Commentary |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9621123/ https://www.ncbi.nlm.nih.gov/pubmed/36317630 http://dx.doi.org/10.1172/JCI163670 |
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