ArticleThe Journal of clinical investigation2022
METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma.
Article in The Journal of clinical investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Age-dependent association of the METTL23 c.84+60delAT variant with normal-tension glaucoma.Journal of human genetics · 2026Article
- Transcending genome-wide association studies to create useful multi-omic views of glaucoma.Progress in retinal and eye research · 2026Review
- JMJD6-mediated epigenetic silencing of innate immunity promotes pseudorabies virus replication.Journal of virology · 2026Article
- Emerging role of epigenetic mechanisms in glaucoma and their translational potential.Frontiers in genetics · 2026Review
- Epigenetics of glaucoma in the trabecular meshwork.Clinical epigenetics · 2025Review
- The Extremely Low Mechanical Force Generated by Nano-Pulling Induces Global Changes in the Microtubule Network, Nuclear Morphology, and Chromatin Transcription in Neurons.Small (Weinheim an der Bergstrasse, Germany) · 2025Article
- Coronary artery aneurysm and early calcification in Kawasaki disease withEuropean heart journal. Case reports · 2025Article
- Progress in Translating Glaucoma Genetics Into the Clinic: A Review.Clinical & experimental ophthalmology · 2025Review
- Association Analysis ofGenes · 2024Article
- Epigenetic Regulation of Cardiomyocyte Maturation by Arginine Methyltransferase CARM1.Circulation · 2024Article
- Exploring the Genetic Landscape of Childhood Glaucoma.Children (Basel, Switzerland) · 2024Review
- Emerging potential of immunopeptidomics by mass spectrometry in cancer immunotherapy.Cancer science · 2024Review
- Exploring Epigenetic Modifications as Potential Biomarkers and Therapeutic Targets in Glaucoma.International journal of molecular sciences · 2024Review
- Transcriptomic analysis of plasma-derived small extracellular vesicles reveals the pathological characteristics of normal tension glaucoma.Extracellular vesicles and circulating nucleic acids · 2024Article
- Posttranslational modifications of proteins in diseased retina.Frontiers in cellular neuroscience · 2023Review
- Epigenetics in glaucoma: a link between histone methylation and neurodegenerationThe Journal of clinical investigation · 2022Article
- Prevalence of Myocilin Mutations in a Cohort of Patients with Juvenile Open-Angle Glaucoma from sub-Saharan Africa.Ophthalmology. GlaucomaArticle
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18 authors at 7 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Normal-tension glaucoma (NTG) is a heterogeneous disease characterized by retinal ganglion cell (RGC) death leading to cupping of the optic nerve head and visual field loss at normal intraocular pressure (IOP). The pathogenesis of NTG remains unclear. Here, we describe a single nucleotide mutation in exon 2 of the methyltransferase-like 23 (METTL23) gene identified in 3 generations of a Japanese family with NTG. This mutation caused METTL23 mRNA aberrant splicing, which abolished normal protein production and altered subcellular localization. Mettl23-knock-in (Mettl23+/G and Mettl23G/G) and -knockout (Mettl23+/- and Mettl23-/-) mice developed a glaucoma phenotype without elevated IOP. METTL23 is a histone arginine methyltransferase expressed in murine and macaque RGCs. However, the novel mutation reduced METTL23 expression in RGCs of Mettl23G/G mice, which recapitulated both clinical and biological phenotypes. Moreover, our findings demonstrated that METTL23 catalyzed the dimethylation of H3R17 in the retina and was required for the transcription of pS2, an estrogen receptor α target gene that was critical for RGC homeostasis through the negative regulation of NF-κB-mediated TNF-α and IL-1β feedback. These findings suggest an etiologic role of METTL23 in NTG with tissue-specific pathology.
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