Silencing the expression of CTRP5/C1QTNF5 and ELOVL4 genes by small interfering RNA

Abstract

Two monogenic macular degenerations, the stargardt-like macular degeneration (STGD3) and the late-onset retinal dystrophy (L-ORD), are caused due to mutations in the genes elongation of very long chain fatty acid-4 (ELOVL4) and C1Q tumor necrosis factor-related protein-5 (CTRP5/C1QTNF5) genes, respectively. It has been shown that disease-causing mutations alter the trafficking of these proteins and exert dominant-negative effect. Selective elimination of these mutant proteins may facilitate restoring the normal function of retinal tissue. In this study, we describe characterization of small interfering RNA (siRNA) probes that selectively and effectively knock down the expression of the wild-type and mutant ELOVL4 and the wild-type CTRP5 genes in Cos-7 cells. These probes will be valuable in studying the function of wild-type ELOVL4 and CTRP5 genes, affect of mutant proteins and the potential use of gene silencing in treating STGD3 and L-ORD. © 2012 Springer Science+Business Media, LLC.