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Vertebrate Animal Models of RP59: Current Status and Future Prospects
Steven J Fliesler1,2, Sriganesh Ramachandra Rao1,2, Mai N Nguyen3
1Departments of Ophthalmology and Biochemistry, Neuroscience Graduate Program, Jacobs School of Medicine, State University of New York-University at Buffalo, Buffalo, NY 14203, USA.
International Journal of Molecular Sciences
|November 11, 2022
Summary
Retinitis pigmentosa-59 (RP59) results from DHDDS gene mutations affecting dolichol synthesis. Mouse models and patient data reveal insights into RP59 ocular phenotypes and potential therapeutic targets.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Retinitis pigmentosa-59 (RP59) is a rare, recessive visual disorder.
- It is caused by mutations in the dehydrodolichyl diphosphate synthase (DHDDS) gene.
- DHDDS is crucial for dolichol synthesis, essential for protein glycosylation.
Purpose of the Study:
- To review and analyze existing RP59 models, focusing on ocular phenotypes.
- To investigate the pathobiology of RP59 by examining DHDDS mutations in mice and humans.
- To identify potential therapeutic strategies for RP59.
Main Methods:
- Review of published phenotypic data from RP59 mouse models (knock-in and knockout).
- Analysis of ocular phenotypes in mouse models with DHDDS mutations.
- Examination of clinical findings in human patients with DHDDS mutations causing RP59 and neurological disorders.
Main Results:
- DHDDS mutations lead to impaired dolichol synthesis and protein N-glycosylation.
- RP59 mouse models exhibit distinct ocular phenotypes relevant to the human disease.
- DHDDS mutations are also associated with epilepsy and other neurological conditions.
Conclusions:
- Understanding RP59 pathobiology requires further investigation of DHDDS function and its impact on cellular processes.
- RP59 models provide valuable tools for studying disease mechanisms and developing targeted therapies.
- Therapeutic interventions aimed at restoring dolichol synthesis or mitigating glycosylation defects may offer treatment options for RP59.
