Genetic Basis Uncovered for Glaucoma

In two recent publications, Northwestern Medicine scientists and international collaborators discovered mutations that cause improper drainage and a buildup of ocular pressure leading to one form of congenital glaucoma, and identified a path towards future treatments for the disease.
Susan Quaggin, MD, chief of Nephrology and Hypertension in the Department of Medicine and director of the Feinberg Cardiovascular Research Institute, was senior author on the studies, the first published in the Journal of Clinical Investigation (JCI) and the second published in the Proceedings of the National Academy of Sciences of the United States of America (PNAS).
Glaucoma is a leading cause of blindness around the globe, and elevated intraocular pressure (IOP) is an important risk factor for the disease. Developmental defects in the anterior chamber of the eye, including a drainage vessel called Schlemm’s canal, can lead to a particularly severe form of glaucoma in children known as primary congenital glaucoma (PCG).
“This special vessel acts like the drainpipes in a bathtub — to prevent the eye from ‘overfilling,’ ” said Quaggin, also the Charles H. Mayo, MD, Professor and a professor of Medicine in the Division of Nephrology and Hypertension.
Previous studies from Quaggin and her collaborators have shown loss-of-function mutations in the angiopoietin (ANGPT) receptor TIE2/TEK in families with PCG, and that ANGPT/TIE2 pathway activity is critical for Schlemm’s canal development.

Uncovering the genetic roots of congenital glaucoma

In the JCI study, Quaggin and her colleagues used mice models to explore the importance of individual components of the ANGPT/TEK pathway, finding mice without the growth factor ANGPT1 had severely deformed and small Schelmm’s canals. In addition, loss of TIE2/TEK, the angiopoietin receptor, had a similar effect….
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Source: Northwestern Medicine