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Conjunctival transcriptomics in ocular mucous membrane pemphigoid.
Jesse Panthagani1, Kusy Suleiman1, Rachel C Vincent2
1Academic Unit of Ophthalmology, Institute of Inflammation and Ageing, University of Birmingham, UK; Birmingham and Midland Eye Centre, Sandwell and West Birmingham NHS Trust, Birmingham, UK.
The Ocular Surface
|September 10, 2023
Summary
Ocular Mucous Membrane Pemphigoid (OcMMP) involves chronic inflammation and scarring. Conjunctival transcriptomic analysis using simple swabs identifies profibrotic genes and pathways, aiding in understanding this rare disease.
Area of Science:
- Ophthalmology
- Genomics
- Immunology
Background:
- Ocular Mucous Membrane Pemphigoid (OcMMP) is a rare autoimmune disease causing progressive conjunctival scarring and potential blindness.
- Understanding the molecular mechanisms of OcMMP is crucial for developing effective treatments.
Purpose of the Study:
- To assess the feasibility of conjunctival genetic transcriptomic analysis as a tool for studying pathogenic pathways in OcMMP.
- To identify key genes and pathways involved in OcMMP pathogenesis.
Main Methods:
- Conjunctival RNA was profiled from 6 OcMMP patients and 8 controls using the NanoString nCounter Human Fibrosis panel.
- Gene expression data (770 genes) were analyzed, stratifying by visible conjunctival inflammation.
- Differential gene expression and pathway analysis were performed using ROSALIND HyperScale architecture.
Main Results:
- 93 differentially expressed genes were identified between OcMMP patients and controls.
- Upregulated genes included fibrosis markers (COL3A1, COL1A1, FN1, THBS1); downregulated genes indicated ocular surface failure.
- Key pathways involved in extracellular matrix (ECM) remodeling were significantly altered, particularly in inflamed eyes.
Conclusions:
- Conjunctival swabs and NanoString technology can identify profibrotic genes in OcMMP.
- This approach differentiates inflamed eyes and offers potential for monitoring disease progression and developing biomarkers.
