New intronic PRPF31 mutation causing RP can be targeted with ASO
AI Briefing
- • Researchers identified a new intronic PRPF31 mutation linked to retinitis pigmentosa (RP) and blindness.
- • PRPF31 mutations are the most common cause of autosomal dominant RP worldwide.
- • ASO therapy may be effective in targeting the new mutation causing RP.
Source Summary
Retinitis pigmentosa (RP) is an inherited retinal dystrophy that causes loss of vision. Pathogenic variants in proteins involved in RNA splicing are the second most common cause of autosomal dominant RP, with mutations in PRPF31 being the most prevalent. Additionally, mutations in spliceosomal small nuclear RNAs (snRNAs) U4 and U6 have recently been linked to RP.
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