Our science is based on breakthrough research conducted at the Shiley Eye Institute at the University of California San Diego (UCSD). The research identified how the age-related dysfunction of a gene regulating fatty acid synthesis plays a key role in retinal diseases. The gene of interest plays a critical role in the intracellular synthesis of long chain polyunsaturated fatty acids without which retinal cells cannot survive and function
DNA methylation is a well known process for regulating gene expression. Methylation inhibits expression and gene reactivation can be induced by de-methylation. Gene methylation primarily occurs at DNA segments rich in CpG nucleotides. Thus, genes rich in CpG "islands" are susceptible to silencing by methylation. The target gene is rich in CpG islands which become methylated with aging. Thus, there is an age related dysfunction in the target gene.
To demonstrate the role of the target gene in AMD pathology, an experimental model "knocking-down" the gene was developed in mice. Mice with the 'knocked-down" gene showed marked acceleration of drusen formation, reduced scotopic response and other pathological characteristics typical of AMD.
To demonstrate the therapeutic potential of target gene demethylation therapy, aged mice were treated with intravitreal decitabine (5-Aza) a currently approved de-methylating agent. Treatment improved expression of the target gene and improved scotopic response.