Peer-reviewed veterinary case report
Dysregulated DNA Methylation inRetinal Pigment Epithelium: Insights into Early Stage of Stargardt Disease.
- Journal:
- International journal of molecular sciences
- Year:
- 2025
- Authors:
- Dave, Arpita et al.
- Affiliation:
- UCLA Jules Stein Eye Institute and Department of Ophthalmology · United States
Abstract
Stargardt disease (STGD1), the most common inherited juvenile macular degeneration, is caused by biallelic mutations in thegene. Currently, there is no approved treatment. In this study, we investigated early-stage epigenomic changes in the retinal pigment epithelium (RPE) ofmice, a well-established model of STGD1. Reduced representation bisulfite sequencing (RRBS) revealed hypermethylation of gene regions associated with disease-related pathways, implicating methyl-CpG-binding protein 2 (MeCP2) and RE1-silencing transcription factor (REST) as potential regulators. Notably, DNA methylation of a subset of genes preceded their transcriptional change and disease phenotypes inRPE. Together with the detected age-dependent increase in MeCP2 levels inRPE, these findings suggest that early DNA methylation changes may contribute to RPE dysfunction and eventual cell loss in STGD1.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/41226778/