# Bioinformatics Analysis of Lactylation-related Biomarkers and Potential Pathogenesis Mechanisms in Age-related Macular Degeneration

**Authors:** Chenwei Gui, Yan Gao, Rong Zhang, Guohong Zhou

PMC · DOI: 10.2174/0113892029291661241114055924 · 2025-01-02

## TL;DR

This study identifies seven lactylation-related genes linked to age-related macular degeneration, offering new insights into its mechanisms and potential treatments.

## Contribution

The study identifies novel lactylation-related biomarkers and explores their potential role in the pathogenesis of AMD.

## Key findings

- Sixty-eight lactylation-related differentially expressed genes were identified in AMD patients.
- Seven key genes were validated as down-regulated in AMD patients using RT-qPCR.
- These genes may provide clues for targeted therapy and deepen understanding of AMD mechanisms.

## Abstract

Lactylation is increasingly recognized to play a crucial role in human health and diseases. However, its involvement in age-related macular degeneration (AMD) remains largely unclear.

The aim of this study was to identify and characterize the pivotal lactylation-related genes and explore their underlying mechanism in AMD.

Gene expression profiles of AMD patients and control individuals were obtained and integrated from the GSE29801 and GSE50195 datasets. Differentially expressed genes (DEGs) were screened and intersected with lactylation-related genes for lactylation-related DEGs. Machine learning algorithms were used to identify hub genes associated with AMD. Subsequently, the selected hub genes were subject to correlation analysis, and reverse transcription quantitative real-time PCR (RT-qPCR) was used to detect the expression of hub genes in AMD patients and healthy control individuals.

A total of 68 lactylation-related DEGs in AMD were identified, and seven genes, including HMGN2, TOP2B, HNRNPH1, SF3A1, SRRM2, HIST1H1C, and HIST1H2BD were selected as key genes. RT-qPCR analysis validated that all 7 key genes were down-regulated in AMD patients.

We identified seven lactylation-related key genes potentially associated with the progression of AMD, which might deepen our understanding of the underlying mechanisms involved in AMD and provide clues for the targeted therapy.

## Linked entities

- **Genes:** HMGN2 (high mobility group nucleosomal binding domain 2) [NCBI Gene 3151], TOP2B (DNA topoisomerase II beta) [NCBI Gene 7155], HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1) [NCBI Gene 3187], SF3A1 (splicing factor 3a subunit 1) [NCBI Gene 10291], SRRM2 (serine/arginine repetitive matrix 2) [NCBI Gene 23524], H1-2 (H1.2 linker histone, cluster member) [NCBI Gene 3006], H2BC5 (H2B clustered histone 5) [NCBI Gene 3017]
- **Diseases:** age-related macular degeneration (MONDO:0005150)

## Full-text entities

- **Genes:** HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1) [NCBI Gene 3187] {aka HNRPH, HNRPH1, NEDCDS, hnRNPH}, TOP2B (DNA topoisomerase II beta) [NCBI Gene 7155] {aka BILU, TOPIIB, top2beta}, SF3A1 (splicing factor 3a subunit 1) [NCBI Gene 10291] {aka PRP21, PRPF21, SAP114, SF3A120}, H1-2 (H1.2 linker histone, cluster member) [NCBI Gene 3006] {aka H1.2, H1C, H1F2, H1s-1, HIST1H1C}, H2BC5 (H2B clustered histone 5) [NCBI Gene 3017] {aka H2B.1B, H2B/a, H2B/b, H2B/g, H2B/h, H2B/k}, SRRM2 (serine/arginine repetitive matrix 2) [NCBI Gene 23524] {aka 300-KD, CWF21, Cwc21, HSPC075, MRD72, SRL300}, HMGN2 (high mobility group nucleosomal binding domain 2) [NCBI Gene 3151] {aka HMG17}
- **Diseases:** AMD (MESH:D008268)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

12 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12105335/full.md

---
Source: https://tomesphere.com/paper/PMC12105335