Genetic link between thin cornea and glaucoma

Genetic scientists from ory University in Atlanta, Georgia, made the discovery, after they identified a transcription factor called POU6F2 in developing retinal nerve cells and corneal cells of specially bred laboratory mice.Study lead Professor Eldon Geisert and his team found the protein by comparing genetic variants that lead to thin corneas in mice with genes that increase a person’s risk of primary open angle glaucoma.{{quote-A:R-W:450-I:2-Q: Defining the link between central corneal thickness and glaucoma will aid in early detection of glaucoma -WHO:Eldon Geisert, Professor in the Department of Ophthalmology}}According to the researchers, finding a genetic link between glaucoma and thin corneas has proved difficult because while both traits run in families, a complicated mix of multiple genes and environmental conditions contribute to these complex traits.However, roving the gene that codes for POU6F2 meant the affected mice had thinner corneas, which has lead Geisert to view it as a possible risk factor for glaucoma in humans that deserves further investigation.“Glaucoma is a complex disease with many genetic and environmental factor influencing the patient population. Previous work by collaborators at Harvard and Duke identified many of these genetic factors; however, we currently only can account for approximately 7% of the genetic risk for glaucoma,” Geisert explained.“We chose to use a well-defined mouse syst to define genetic elents that can be directly related to human disease. It is our hope that defining this link between central corneal thickness and glaucoma will aid in early detection of glaucoma and eventually treatments to halt the progression of this disease.”The team has also suggested that POU6F2 helps to regulate corneal development and may be partly responsible for having a healthy cornea, by regulating st cells in adult mice. However, despite the success of the study, additional research is required to determine the exact mechanism.