To explore how multi-omics research can identify potential biomarkers for improved detection and monitoring of Fabry disease.
Approach:
Review of Multi-Omics Research: The review examines transcriptomics, proteomics, and metabolomics as supplementary approaches to traditional diagnostic methods for Fabry disease.
Key Findings:
Fabry disease is caused by GLA gene variants leading to reduced alpha-galactosidase A activity and organ damage.
Current diagnostic tests are insufficient, particularly for heterozygous female patients.
Proteomic studies identified candidate biomarkers in blood and urine linked to disease complications.
Transcriptomic analysis revealed altered gene expression in Fabry podocytes related to kidney damage.
Molecular changes associated with cardiac disease were also noted, indicating broader implications for organ involvement.
Interpretation:
Molecular profiles could enhance the understanding of organ injury in Fabry disease, complementing existing diagnostic methods.
Limitations:
Evidence for routine multi-omics testing is not yet sufficient.
Many studies involved small and heterogeneous patient groups.
Proposed biomarkers require validation in larger, multicenter cohorts.
Barriers include assay cost, accessibility, data integration, and clinical significance of molecular changes.
Conclusion:
While multi-omics approaches show promise, further validation and research are needed before routine implementation.
