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Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.

Doug D Chung¹, Ricardo F Frausto¹, Benjamin R Lin¹

¹Stein Eye Institute, David Geffen School of Medicine at University of California-Los Angeles, Los Angeles, California, United States.

Investigative Ophthalmology & Visual Science

|June 28, 2017

Summary

This summary is machine-generated.

This study reveals altered gene expression in posterior polymorphous corneal dystrophy (PPCD) and identifies ZEB1 as a key factor. Understanding these molecular changes may help find new genetic targets for PPCD.

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Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Posterior polymorphous corneal dystrophy (PPCD) is a genetic eye disorder affecting corneal clarity.
The precise molecular mechanisms underlying PPCD remain incompletely understood.

Purpose of the Study:

To investigate the molecular basis of PPCD by analyzing the transcriptome of affected corneas.
To determine the impact of reduced ZEB1 expression on corneal endothelial cell (CEnC) gene expression.

Main Methods:

RNA sequencing (RNA-seq) was performed on corneal endothelium from PPCD patients and controls.
Primary human CEnCs (pHCEnCs) were treated with siRNA to reduce ZEB1 expression.
Gene expression changes were validated using quantitative polymerase chain reaction (qPCR) and in situ hybridization.

Main Results:

Significant alterations in gene expression were observed in PPCD corneas, with loss of specific endothelial genes.
Genes associated with ZEB1 and OVOL2 showed differential expression in PPCD patients.
Reduced ZEB1 expression in pHCEnCs affected hundreds of genes involved in cellular processes.

Conclusions:

The study identified an altered transcriptome in PPCD, offering insights into its molecular pathology.
Further research into ZEB1 and OVOL2-associated genes may identify candidate genes for PPCD patients lacking known mutations.