Peripherin-2 mRNA (PRPH2 mRNA)

Peripherin-2 (PRPH2) mRNA encodes a critical tetraspanin protein localized to the outer segments of rod and cone photoreceptor cells in the retina. The PRPH2 protein is essential for the morphogenesis and structural stability of the flattened discs that house the visual pigments; without it, photoreceptors fail to develop proper outer segments, leading to cell death and vision loss. Mutations in the PRPH2 gene are a major cause of inherited retinal dystrophies, exhibiting significant phenotypic diversity ranging from retinitis pigmentosa to various forms of macular degeneration. Therapeutic targeting of PRPH2 mRNA primarily involves the use of antisense oligonucleotides (ASOs) or RNA interference (RNAi) to selectively degrade mutant transcripts, particularly in cases of dominant-negative mutations. Additionally, gene replacement strategies using viral vectors aim to deliver functional PRPH2 mRNA to restore protein levels in patients with haploinsufficiency. Because the retina is an immune-privileged site and easily accessible for local delivery, PRPH2 mRNA remains a high-priority target for precision genetic medicine in ophthalmology.

Other names

RDS mRNARetinal degeneration slow mRNATetraspanin-22 mRNATSPAN22 mRNAPeripherin-2RDS

Antisense oligonucleotide (ASO) mediated knockdown of mutant alleles or gene replacement therapy to restore functional protein levels.