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retinal degeneration

Tuesday 4 May 2004


- Alternative splicing and retinal degeneration. (23647439)

  • Alternative splicing is highly regulated in tissue-specific and development-specific patterns, and it has been estimated that 15% of disease-causing point mutations affect pre-mRNA splicing.
  • Cis-acting splice site and trans-acting splicing factor mutations can affect pre-mRNA splicing and contribute to retinal degeneration.
  • Numerous splice site mutations have been identified in retinitis pigmentosa (RP) and various cone-rod dystrophies.
  • Mutations in alternatively spliced retina-specific exons of the widely expressed RPGR and COL2A1 genes lead primarily to X-linked RP and ocular variants of Stickler syndrome, respectively.
  • Furthermore, mutations in general pre-mRNA splicing factors, such as PRPF31, PRPF8, and PRPF3, predominantly cause autosomal dominant RP.
  • These findings suggest an important role for pre-mRNA splicing in retinal homeostasis and the pathogenesis of retinal degenerative diseases.
  • The development of novel therapeutic strategies to modulate aberrant splicing, including small molecule-based therapies, has the potential to lead to new treatments for retinal degenerative diseases.

Open references

- Alternative splicing and retinal degeneration. Liu MM, Zack DJ. Clin Genet. 2013 Aug;84(2):142-9. doi : 10.1111/cge.12181 PMID: 23647439 [Free]


- Preising MN, Heegard S. Recent advances in early-onset severe retinal degeneration: more than just basic research. Trends Mol Med. 2004 Feb;10(2):51-4. PMID: 15106616