New research published in the Journal of Clinical Investigation has identified a genetic mutation that just might be the culprit behind severe pediatric glaucoma cases.
What’s this new genetic mutation?
Thrombospondin-1 (THBS1) is a secreted protein known for being a potent inhibitor of blood vessel growth (angiogenesis).
Tell me about the research.
Investigators used genome-sequencing technology to uncover THBS1 present in three diverse (ethnically and geographically) families who had pediatric glaucoma. They then developed a mouse model featuring THBS1 and discovered that the mouse also had glaucoma.
What did they find?
Researchers found that THBS1 caused abnormal thrombospondin proteins to collect in the intraocular drainage structures of the eye that help regulate intraocular pressure (IOP), which then led to pressure buildup, causing optic nerve damage, then retinal ganglion cell loss, and, as a result, vision loss. (via)
Takehome.
The study authors noted that these findings have significant clinical implications. Awareness of THBS1 could potentially lead to earlier treatments with conventional therapies and new therapies that target abnormal protein accumulation.
They also intend to assess if other THBS1 mutations are associated with adult-onset diseases such as primary open-angle glaucoma.