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. 2024 Dec 24;9(1):e001573.
doi: 10.1136/bmjophth-2023-001573.

Analysis of biofluid metabolomic profiles to the discovery of biomarkers in age-related macular degeneration

Jiali Wu  1 , Min Zhang  1 , Xiaodong Sun  2
Affiliations

Analysis of biofluid metabolomic profiles to the discovery of biomarkers in age-related macular degeneration

Jiali Wu et al. BMJ Open Ophthalmol. .

Abstract

Objective: Age-related macular degeneration (AMD) is one of the leading causes of irreversible visual impairment and blindness in the elderly. As AMD is a multifactorial disease, it is critical to explore useful biomarkers and pathological pathways underlying it. The purpose of this study is to summarise current metabolic profiles and further identify potential metabolic biomarkers and therapeutic targets in AMD, which could facilitate clinical diagnosis and treatment.

Methods and analysis: Relevant metabolomics studies published before 10 December 2021 were generally reviewed from online resources by two investigators. Studies with sufficient information and data were included in this systematic review and repeatedly identified metabolites were extracted. Pathway and Kyoto Encyclopaedia of Genes and Genomes (KEGG) analyses were performed. The public Gene Expression Omnibus (GEO) database was used for coanalysis with differential metabolites to construct a pathway network via MetaboAnalyst V.5.0.

Results: 16 studies were included in our analysis. 24 metabolites were repeatedly detected and regarded as potential biomarkers for AMD. Pathway analysis implied a major role of phenylalanine, tyrosine and tryptophan pathways in AMD pathology. 11 KEGG pathways were enriched, meanwhile, 11 metabolic pathway clusters were identified by coanalysing the differential metabolites and gene profiles using the GEO database.

Conclusion: In this study, we summarised 16 metabolomic studies on AMD, and 24 metabolites were identified as potential biofluid biomarkers. This provided novel insights into the pathogenic mechanisms underlying AMD. Further studies are warranted to validate and expand an effective pattern for AMD diagnosis and treatment.

Keywords: Angiogenesis; Macula; Neovascularisation.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1. Graph showing pathway analysis based on metabolites identified. Colour of the circles is proportional to the enrichment significance. Redder colour represents greater significance level. Size of the circles indicates the pathway impact value. Larger size represents higher impact value.
Figure 2
Figure 2. Graph showing pathway analysis based on metabolites identified in wet AMD. (A) Venn graph. (B) Repeated metabolites. (C, D) Pathway analysis. AMD, age-related macular degeneration; FDR, false discovery rate.
Figure 3
Figure 3. Graph showing pathway analysis based on metabolites identified in PCV patients. (A) Venn graph. (B, C) Pathway analysis. (C, D) Repeated metabolites and pathway analysis. PCV, polypoidal choroidal vasculopathy.
Figure 4
Figure 4. Network analysis of genes and metabolites in AMD. AMD, age-related macular degeneration.
See this image and copyright information in PMC

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