PersonalMed

Personalized medicine: PARP inhibition as a means to save photoreceptors in Pde6a mutant mouse retina, genotype matched to human Retinitis Pigmentosa patients

01/07/2015 to 30/06/2016

Retinitis Pigmentosa (RP) relates to a heterogeneous group of blinding diseases, which collectively affect about 1 in 4000 individuals worldwide. The enzyme poly(ADP-ribose) polymerase (PARP) has recently been shown to be involved in the degeneration of photoreceptors in a variety of animal models for RP (Arango-Gonzalez et al., PLoS One, 9:e112142, 2014). To test whether PARP is also responsible for photoreceptor loss caused by mutations in the PDE6A gene, we will use mouse models homozygous for the V685M, R562W, and D670G mutations in Pde6a. Since homozygosity for mutant alleles is very rare in human RD patients, we will also evaluate compound heterozygous Pde6aV685M/R562W animals, which are genotype matched to human RP patients.