RPGRIP1-deficient dogs as a model for gene therapy
Author Information
Author(s): Lhériteau Elsa, Libeau Lyse, Stieger Knut, Deschamps Jack-Yves, Mendes-Madeira Alexandra, Provost Nathalie, Lemoine Francoise, Mellersh Cathryn, Ellinwood N. Matthew, Cherel Yan, Moullier Philippe, Rolling Fabienne
Primary Institution: INSERM UMR 649, CHU-Hôtel Dieu, Nantes, France
Hypothesis
Canine models with RPGRIP1 mutations can be used to evaluate gene therapy for retinal degeneration.
Conclusion
Initiating gene therapy as early as possible after birth may prevent or delay the loss of rod function in RPGRIP1-deficient dogs.
Supporting Evidence
- Cone function was lost by 2 months of age, while rod function was preserved until 9 months.
- Visual assessment showed that dogs could avoid obstacles until 11 months of age.
- Histological examination revealed progressive thinning of the outer nuclear layer due to photoreceptor cell death.
Takeaway
This study looked at dogs with a specific genetic problem that causes vision loss, and it found that treating them early could help save their eyesight.
Methodology
The study involved observing RPGRIP1-deficient dogs over two years using noninvasive procedures like ERG, OCT, and histological examinations.
Limitations
The study was limited to a small sample size of dogs and the findings may not be generalizable to all cases of retinal degeneration.
Participant Demographics
RPGRIP1-deficient miniature longhaired dachshund dogs.
Statistical Information
P-Value
8.7E-07
Statistical Significance
p<0.05
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