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Published on: November 19, 2011
Review: the history and role of naturally occurring mouse models with Pde6b mutations
Juanjuan Han1, Astra Dinculescu2, Xufeng Dai1
1Eye Hospital, School of Ophthalmology & Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Abstract:
Mouse models are useful tools for developing potential therapies for human inherited retinal diseases, such as retinitis pigmentosa (RP), since more strains are being identified with the same mutant genes and phenotypes as humans with corresponding retinal degenerative diseases. Mutations in the beta subunit of the human rod phosphodiesterase (PDE6B) gene are a common cause of autosomal recessive RP (arRP). This article focuses on two well-established naturally occurring mouse models of arRP caused by spontaneous mutations in Pde6b, their discovery, phenotype, mechanism of degeneration, strengths and limitations, and therapeutic approaches to restore vision and delay disease progression. Viral vector, especially adeno-associated viral vector (AAV) -mediated gene replacement therapy, pharmacological treatment, cell-based therapy and other approaches that extend the therapeutic window of treatment, is a potentially promising strategy for improving photoreceptor function and significantly slowing the process of retinal degeneration.
Insights
Mouse models with Pde6b gene mutations offer insights into autosomal recessive retinitis pigmentosa (arRP). Gene therapy and other strategies show promise for restoring vision and slowing retinal degeneration in these models.
Area of Science:
- Genetics
- Ophthalmology
- Neuroscience
Background:
- Inherited retinal diseases like retinitis pigmentosa (RP) impact millions globally.
- Mutations in the PDE6B gene are a frequent cause of autosomal recessive RP (arRP).
- Naturally occurring mouse models with Pde6b mutations mimic human arRP phenotypes, aiding research.
Purpose of the Study:
- To review established mouse models of arRP caused by Pde6b mutations.
- To discuss the discovery, characteristics, and degeneration mechanisms of these models.
- To explore therapeutic strategies for vision restoration and disease progression delay.
Main Methods:
- Focus on two well-characterized spontaneous Pde6b mutant mouse models.
- Analysis of genetic mutations, phenotypic expression, and disease mechanisms.
- Review of current and emerging therapeutic approaches.
Main Results:
- These mouse models accurately reflect human arRP genetic and phenotypic features.
- Detailed understanding of photoreceptor degeneration pathways in Pde6b-deficient retinas.
- Demonstration of therapeutic potential for various treatment modalities.
Conclusions:
- Pde6b mouse models are invaluable for studying arRP pathogenesis.
- Gene replacement therapy, particularly AAV-mediated, shows significant promise.
- Multimodal therapeutic strategies may offer the best chance to preserve vision.
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