Extremely Rare Gene Variants in Complement Factor 8 Point to a Potential Cause of Age-Related Macular Degeneration (AMD)

A study from the National Eye Institute (NEI) has identified rare genetic variants that could point to one of the general mechanisms driving age-related macular degeneration (AMD), a common cause of vision loss in older adults. The variants generate malformed proteins that alter the stability of the membrane attack complex (MAC) (image), which may drive a chronic inflammatory response in the retina. The findings, published on April 1, 2023 in iScience, point to MAC as a potential therapeutic target to slow or prevent the development of AMD. NEI is part of the National Institutes of Health. The open-access article is titled “Ultra-Rare Complement Factor 8 Coding Variants in Families with Age-Related Macular Degeneration." There are many known genetic variants that raise or lower an individual’s risk of getting AMD; however, the contribution of each of these genetic changes to AMD is small.
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