Genetic mechanisms may reveal retinal vascular disease therapeutic targets

Key Takeaways

• Researchers have identified novel genetic mechanisms that regulate blood vessel growth in the retina.
• The research may inform future therapeutic strategies for treating retinal vascular disease.

Angiogenesis is the formation of new blood vessels from endothelial cells in existing blood vessels, a process essential for developing new organ systems and promoting tissue repair. Abnormal angiogenesis is a key feature of retinal vascular diseases, including wet age-related macular degeneration, proliferative diabetic retinopathy, and retinopathy of prematurity. In these diseases, new, abnormal blood vessels grow in the retina, a process called neovascularization, which can cause vision loss. While the molecular mechanisms of angiogenesis have been previously established, the precise genetic mechanisms that also help regulate this process have remained elusive.

Investigators led by Tsutomu Kume, Ph.D., professor of Medicine in the Division of Cardiology and of Pharmacology, have identified novel genetic mechanisms that regulate blood vessel growth in the retina, according to a Northwestern Medicine study published in Nature Communications. Specifically, they found that a gene called FOXC1 is a key regulator of blood vessel growth and the development of the retinal vasculature. The findings may inform future therapeutic strategies for treating retinal vascular disease. “I am particularly excited about continuing our current collaboration with Dr. Kume to pursue this line of investigation, particularly as it relates to finding new therapeutic targets for diabetic retinopathy and other ischemic retinopathies, and continuing to improve our understanding of these sight-threatening diseases,” said Amani Fawzi, MD, a co-author of the study.

Edited by Miriam Kaplan, PhD

Source: Melissa Rohman, Northwestern University, Medical Xpress, June 11, 2024; see source article