Mouse studies identify POU6F2 as an important protein involved in corneal development and thickness – sciencedaily

Genetic studies in mice point to a protein called POU6F2, which can modulate corneal thickness, as a possible risk factor for glaucoma in humans, report Eldon Geisert of Emory University and colleagues on 25 january in PLOS Genetics.

Glaucoma includes a group of eye diseases that cause pressure to build up in the eye, which damages the optic nerve and ultimately leads to blindness. Multiple risk factors and underlying mutations contribute to glaucoma, but the best known risk factor is having a thin cornea. Geisert and his colleagues studied genes that affect corneal thickness using specially selected strains of mice. They then compared genetic variants that lead to thin corneas in mice, to genes that increase a person’s risk for a common type of glaucoma, called primary open-angle glaucoma. Researchers have identified a transcription factor called POU6F2, which is found in the development of retinal nerve cells and corneal cells in mice.

When they removed the gene that codes for POU6F2, the affected mice had thinner corneas than normal mice. Additionally, POU6F2 appears to help regulate corneal development and may also be responsible, in part, for maintaining healthy cornea by regulating corneal stem cells in adult mice.

Overall, the new study suggests that genetic variations in the gene that encodes POU6F2 may affect the structure of the eye and increase a person’s risk for glaucoma, but more studies will be needed to describe the exact mechanism. Finding a genetic link between glaucoma and thin corneas has been difficult because, although both traits are familial, a complicated mix of multiple genes and environmental conditions contributes to these complex traits. The role of POU6F2 in corneal development and thickness in mice, however, indicates that the gene is a possible risk factor for glaucoma in humans that merits further investigation.

Eldon E. Geisert adds: “Glaucoma is a complex disease with many genetic and environmental factors that influence the patient population. Previous work by Harvard and Duke collaborators identified many of these genetic factors; however, we can currently only account for about 7% of the genetic risk for glaucoma. We have chosen to use a well-defined mouse system to define the genetic elements that can be directly related to human disease. We hope that defining this link between central corneal thickness and glaucoma will help in the early detection of glaucoma and possibly treatments to halt the progression of this disease. “

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