Results from a study conducted by the National Eye Institute identified a general mechanism behind age-related macular degeneration (AMD).
Researchers discovered a rare genetic variant that generates
malformed proteins that change the stability of the membrane attack complex (MAC). This may be what's responsible for a chronic inflammatory response in the retina.
The study results direct researchers to look at MAC as a possible therapy to either slow or prevent the onset of AMD. Clinical information for hundreds of patients was gathered in addition to families that had a high number of members with AMD.
The researchers were looking for families who had extremely rare AMD-causing variants, where the effect of gene variant is really strong and the variant has a direct effect on the protein structure and function. By focusing on the large families with the extremely rare variants that track closely with the disease across generations, researchers were able to identify two proteins that may be behind AMD pathology in affected patients. Future drugs could be developed with these particular proteins as the focus.