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Age-Related Macular Degeneration Linked to Rare Complement Factor Mutations

In a paper in iScience, researchers at the National Eye Institute, Oregon Health and Science University, and elsewhere describe ultra-rare complement factor immune-related variants involved in age-related macular degeneration (AMD) in several families. Using exome sequencing on four multi-generational AMD-affected families, the team searched for suspicious variants in 13 individuals with AMD and four unaffected family members, narrowing in on alterations in genes coding for complement factor C8-alpha and C8-beta proteins — components of an immune system-related membrane attack complex (MAC) pore involved in mediating ion movement through outer cell membranes. "Given that MAC is the end of the immune system's complement pathway, and because there's such a strong link between these rare variants and disease, we think that targeting it may be a more effective strategy to control AMD," senior author Anand Swaroop, NEI neurobiology chief, said in a statement. "With a small molecule drug, we might be able to control how strongly MAC drives inflammation, and from there slow down progression of AMD."