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Proteomic and gene expression patterns of keratoconus
Arkasubhra Ghosh1, Lei Zhou, Anuprita Ghosh
1Genes, Repair and Regeneration at Ophthalmic Workstation (GROW Research Laboratory), Narayana Nethralaya, Bangalore, Karnataka, India.
Abstract:
Keratoconus is a progressive corneal thinning disease associated with significant tissue remodeling activities and activation of a variety of signaling networks. However, it is not understood how differential gene and protein expression direct function in keratoconus corneas to drive the underlying pathology, ectasia. Research in the field has focused on discovering differentially expressed genes and proteins and quantifying their levels and activities in keratoconus patient samples. In this study, both microarray analysis of total ribonucleic acid (RNA) and whole proteome analyses are carried out using corneal epithelium and tears from keratoconus patients and compared to healthy controls. A number of structural proteins, signaling molecules, cytokines, proteases, and enzymes have been found to be deregulated in keratoconus corneas. Together, the data provide clues to the complex process of corneal degradation which suggest novel ways to clinically diagnose and manage the disease. This review will focus on discussing these recent advances in the knowledge of keratoconus biology from a gene expression and function point-of-view.
Insights
Keratoconus involves complex gene and protein changes in the cornea, leading to ectasia. This study identifies deregulated molecules in keratoconus epithelium and tears, offering new diagnostic and management insights.
Area of Science:
- Ophthalmology and Vision Science
- Molecular Biology
- Genetics
Background:
- Keratoconus is a progressive corneal disease characterized by thinning and ectasia.
- The precise molecular mechanisms, including gene and protein expression changes, driving keratoconus pathology remain incompletely understood.
- Understanding these molecular alterations is crucial for developing effective diagnostic and therapeutic strategies.
Purpose of the Study:
- To investigate differential gene and protein expression in keratoconus corneas compared to healthy controls.
- To identify specific molecular pathways and proteins involved in the pathogenesis of keratoconus.
- To explore potential novel biomarkers for clinical diagnosis and management of keratoconus.
Main Methods:
- Microarray analysis of total ribonucleic acid (RNA) from corneal epithelium of keratoconus patients and controls.
- Whole proteome analysis of corneal epithelium and tears from keratoconus patients and healthy individuals.
- Comparative analysis to identify deregulated genes and proteins.
Main Results:
- Identification of a number of deregulated structural proteins, signaling molecules, cytokines, proteases, and enzymes in keratoconus corneas.
- Significant differences in gene and protein expression profiles between keratoconus and healthy corneal samples.
- Data suggest alterations in cellular structure, signaling, and extracellular matrix remodeling in keratoconus.
Conclusions:
- The study provides insights into the complex molecular biology of keratoconus, highlighting key deregulated pathways.
- Identified molecular changes offer potential targets for novel diagnostic tools and therapeutic interventions for keratoconus.
- Further research into these gene and protein expression differences can advance the understanding and clinical management of keratoconus.
