Genetics could be used to create personalized treatments for patients diagnosed with advanced age related macular degeneration, which is a leading cause of blindness worldwide.
119 patients with 40 unique mutations in a gene associated with the disease and age related macular degeneration were involved in this study, 71% had rare mutations and age related macular degeneration was present , with 52% of the control group having age related macular degeneration present. Analysis of individual mutations identified 3 mutations which lead to two distinct pathways to age related macular degeneration.
Heterozygous genetic variants in complement regulatory protein Factor I gene greatly predispose patients to age related macular degeneration, using serum from carriers and non-carriers of these variants FI’s biologic activity was evaluated, with findings providing basis for functional stratification of populations with potential for personalized treatment.
Mice offspring of parents exposed to repeated stress were found to be more resistant to retinal injury, supporting the theory of retinal resilience to disease depends on classic genetics and inheriting adaptive responses induced in parents, meaning induced resilience to injury can be passed directly onto offspring.
Mice were repeatedly exposed to brief hypoxic stress three times a day for over 16 weeks, which were then mated to similar or control mice, the offspring as adults were exposed to injurious durations of retinal ischemia, adult offspring of both stressed parents were observed to display almost complete resiliences to ischemia, those with one parent had limited protection; both groups were observed to have significantly more resilience than the controlled non-exposed parent offspring.
