In glaucoma, cells in the optic nerve die, preventing the brain from understanding what patients see, first in peripheral vision and gradually in all vision. It is associated with high levels of intraocular pressure and connected to risk factors to and from a number of other conditions including stroke, herpes virus, hypothyroid conditions, and many lifestyle factors.
Researchers have thought for some time that there may be a tie between the WDR36 gene and glaucoma. However, they’ve not been able to understand exactly why that gene has an effect and why some patients with that gene mutated or varied have glaucoma but other patients do not.
A new study indicates that glaucoma develops as a result of changes in several different genes, not only WDR36. This explains the mixed results. The researchers found that 10% of glaucoma incidents arise due to genes that have been understood – the idea of simultaneous changes in several different genes explains much.
The function of the WDR36 gene is to help make specific molecules known as ribosomes that are instrumental in creating proteins to help optic nerve cells function properly. If WDR36 changes and does not help produce ribosome, the entire process falters. Another gene that is critical to the process is STI1 which adapts the ribosome-created proteins to a form that the cell can utilize. So if WDR36 doesn’t produce ribosomes properly AND STI1 doesn’t “package” properly – the 2 mutations synergistically cause glaucoma.
Learn more about glaucoma
Researcher: Dr. Michael Walter and associates, University of Alberta, Department of Medical Genetics in the Faculty of Medicine & Dentistry
Published: “Genetic Sleuth Solves Glaucoma Mystery”, University of Alberta Express News, March 20, 2009