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PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation
Hamzah Aweidah1, Zhouhuan Xi2, José-Alain Sahel3
1Department of Ophthalmology, University of Pittsburgh, Pittsburgh, PA, USA.
Abstract:
Mutations in pre-mRNA processing factor 31 cause autosomal dominant retinitis pigmentosa (PRPF31-RP), for which there is currently no efficient treatment, making this disease a prime target for the development of novel therapeutic strategies. PRPF31-RP exhibits incomplete penetrance due to haploinsufficiency, in which reduced levels of gene expression from the mutated allele result in disease. A variety of model systems have been used in the investigation of disease etiology and therapy development. In this review, we discuss recent advances in both in vivo and in vitro model systems, evaluating their advantages and limitations in the context of therapy development for PRPF31-RP. Additionally, we describe the latest approaches for treatment, including AAV-mediated gene augmentation, genome editing, and late-stage therapies such as optogenetics, cell transplantation, and retinal prostheses.
Insights
Mutations in pre-mRNA processing factor 31 (PRPF31) cause autosomal dominant retinitis pigmentosa. This review explores advanced model systems and novel therapies, including gene augmentation and optogenetics, for treating PRPF31-RP.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Autosomal dominant retinitis pigmentosa (PRPF31-RP) is caused by mutations in the PRPF31 gene, leading to haploinsufficiency and retinal degeneration.
- Current treatments for PRPF31-RP are limited, necessitating the development of novel therapeutic strategies.
- Understanding disease mechanisms through various model systems is crucial for effective therapy development.
Approach:
- This review evaluates the utility and limitations of diverse in vivo and in vitro model systems for studying PRPF31-RP.
- It examines recent advancements in therapeutic approaches for PRPF31-RP.
- The review synthesizes information on gene augmentation, genome editing, optogenetics, cell transplantation, and retinal prostheses.
Key Points:
- PRPF31-RP is characterized by incomplete penetrance due to haploinsufficiency.
- Advanced in vivo and in vitro models are essential for evaluating therapeutic strategies.
- A range of emerging therapies show promise for treating PRPF31-RP.
Conclusions:
- Novel therapeutic strategies are urgently needed for PRPF31-RP.
- The development and application of sophisticated model systems are critical for advancing treatment options.
- Emerging therapies like gene augmentation, genome editing, and regenerative approaches offer potential for restoring vision in PRPF31-RP patients.
