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PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.

Xihao Sun1,2,3,4, Yuan Liang2,5, Yuqin Liang1,2,3,4

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Mutations in PRPF8 cause retinal pigment epithelium defects. Adenine base editing (ABE) corrected these defects in patient-derived cells, showing therapeutic potential for retinitis pigmentosa (RP).

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Area of Science:

  • Ophthalmology
  • Genetics
  • Cell Biology

Background:

  • Pre-mRNA processing factor 8 (PRPF8) mutations are linked to retinitis pigmentosa (RP), a degenerative eye disease.
  • The precise pathological mechanisms of PRPF8 mutations in the retinal pigment epithelium (RPE) remain unclear.

Purpose of the Study:

  • To characterize cellular and molecular phenotypes in RPE derived from PRPF8 mutation patient iPSCs.
  • To evaluate the efficacy of adenine base editing (ABE) in correcting PRPF8 mutations and reversing RPE abnormalities.

Main Methods:

  • Generated induced pluripotent stem cell (iPSC)-RPE from patients with heterozygous PRPF8 mutations and control lines.
  • Utilized CRISPR/Cas9 to create an induced mutation iPSC line.
  • Assessed RPE function (barrier integrity, polarity) and ultrastructure (microvilli, pigment granules).
  • Performed RNA sequencing to analyze splicing events and affected pathways.
  • Applied ABE to correct the PRPF8 mutation in patient iPSCs and re-differentiated corrected cells into RPE.

Main Results:

  • PRPF8-mutant RPE cells showed reduced PRPF8 expression, impaired barrier function, and disrupted polarity.
  • Ultrastructural analysis revealed loss of apical microvilli and pigment granules in mutant RPE.
  • Transcriptomic analysis identified aberrant splicing, particularly in cilium assembly and melanosome pathways.
  • ABE correction successfully restored PRPF8 expression and normalized RPE structure and function.

Conclusions:

  • PRPF8 mutations induce RPE dysfunction and structural defects via splicing abnormalities.
  • ABE-mediated correction of PRPF8 mutations in iPSCs can reverse these defects.
  • This study highlights the potential of gene editing strategies for treating PRPF8-associated RP.