Scientists have determined the three-dimensional structure for a key part of a protein that is associated with glaucoma and identified regions of this domain that correlate with severe forms of the disease.
The new crystal structure is of the olfactomedin (OLF) domain in myocilin, a protein implicated in glaucoma. Many proteins have OLF domains, but mutations in the OLF domain of myocilin are linked to early-onset glaucoma. Despite decades of research, scientists don’t completely understand what biological role myocilin plays or how these mutations create forms of myocilin that build up in the eye.
“Now that we have the 3-D visual picture, we can map the mutations and understand why they can be bad for the protein,” said Raquel Lieberman, an associate professor in Georgia Tech’s School of Chemistry and Biochemistry. Glaucoma, the second leading cause of blindness worldwide, is a group of diseases that damage the eye’s optic nerve and cause vision loss.
The study was sponsored by the American Health Assistance Foundation, the Glaucoma Research Foundation, and the National Institutes of Health (NIH). It was published in the journal Human Molecular Genetics.—BRETT ISRAEL