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Fine-tuning FAM161A gene augmentation therapy to restore retinal function.

Yvan Arsenijevic1, Ning Chang2,3, Olivier Mercey4

  • 1Unit of Retinal Degeneration and Regeneration, Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland. yvan.arsenijevic@fa2.ch.

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Summary

Gene therapy for retinitis pigmentosa-type 28 (RP28) requires precise FAM161A expression. Using both human FAM161A isoforms with a weak promoter in mice restored connecting cilia and improved retinal function.

Keywords:
CiliopathyGene TherapyPromoter ActivityRetinal Degeneration

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Gene therapy shows promise for inherited retinal diseases, but achieving physiological improvements remains challenging.
  • Retinitis pigmentosa-type 28 (RP28) results from FAM161A mutations, crucial for photoreceptor connecting cilia (CC) structure.
  • Loss of FAM161A function leads to CC disorganization, outer segment collapse, and vision loss.

Purpose of the Study:

  • To investigate the efficacy of AAV-mediated gene replacement therapy for RP28 in Fam161a-deficient mice.
  • To compare the impact of different AAV vector promoter activities, doses, and FAM161A isoforms on therapeutic outcomes.
  • To determine the optimal conditions for restoring CC structure and function in RP28.

Main Methods:

  • Utilized adeno-associated virus (AAV) vectors to deliver human FAM161A isoforms to Fam161a-deficient mouse models.
  • Compared various promoter strengths, vector doses, and delivery of both long and short FAM161A isoforms.
  • Assessed cell survival, CC structure, and retinal function following gene therapy interventions.

Main Results:

  • All tested AAV vectors improved photoreceptor cell survival in the treated mice.
  • Precise FAM161A expression in the CC, achieved by co-delivering both isoforms with a weak promoter (FCBR1-F0.4), significantly enhanced retinal function.
  • Suboptimal vector strategies resulted in less targeted expression and limited functional recovery.

Conclusions:

  • Successful gene therapy for RP28 necessitates precise regulation of therapeutic gene expression, specifically for structural proteins like FAM161A.
  • Optimizing vector design, promoter selection, dosage, and delivery of relevant gene isoforms is critical for restoring CC and improving vision.
  • This study highlights the importance of isoform-specific delivery and controlled expression for effective gene replacement therapies in inherited retinal diseases.