Thu, 06/09/2016 - 17:30
The Glaucoma Genetics Lab identified the sequestosome (SQSTM1) gene as a top candidate for causing glaucoma that occurs at low intraocular pressure, that is normal tension glaucoma (NTG). The sequestosome gene encodes a protein that has an important role in the cellular processes called autophagy, which is a mechanism by which cells digest some of their contents in times of stress. Autophagy is essential to the health of all cells, but excess autophagy may cause cells to self-destruct. In prior studies we showed that defects in other autophagy genes (i.e. the TBK1 gene) are linked with optic nerve damage in glaucoma. Consequently, it was a good hypothesis that mutations in SQSTM1, another autophagy gene might also cause some cases of glaucoma. However, our study of over 500 subjects did not detect glaucoma-causing mutations in the SQSTM1 gene. Read more about the study here.