Impact of Retinal Disease-Associated RPE65 Mutations on Retinoid Isomerization
Open accessAbstract
Pathogenic mutations in the RPE65 gene are associated with a spectrum of congenital blinding diseases in humans. We evaluated changes in the promoter region, coding regions, and exon/intron junctions of the RPE65 gene by direct sequencing of DNA from 36 patients affected with Leber's congenital amaurosis (LCA), 62 with autosomal recessive retinitis pigmentosa (arRP), and 21 with autosomal dominant/recessive cone-rod dystrophies (CORD). Fifteen different variants were found, of which 6 were novel. Interesting was Gly244Val, a novel mutation close to the catalytic center. To assess the role of this mutation in RPE65 inactivation, we performed detailed biochemical studies of the mutant along with a structural analysis of the 244 amino acid position with respect to amino acids known to be important for RPE65-dependent retinoid isomerization. Bicistronic plasmid expression of the RPE65 Gly244Val mutant and enhanced green fluorescent protein (EGFP) allowed us to document both its instability in cultured cells by cell sorting and immunoblotting methodology and its loss of RPE65-dependent isomerase activity by enzymatic assays. Further insights into the structural requirements for retinoid isomerization by RPE65 were obtained by using the carotenoid oxygenase (ACO) from Synechocystis (PDB accession code 2BIW ) as a structural template to construct a RPE65 homology model and locating all known inactivating mutations including Gly244Val within this model.
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Leber Congenital Amaurosis (LCA) is caused by mutant RPE65 impacting the isomerization of all-trans retinol to 11-cis retinol, leading to childhood blindness.
“Leber Congenital Amaurosis (LCA) is caused by mutant RPE65 impacting the isomerization of all-trans retinol to 11-cis retinol, leading to childhood blindness [58,59].”
From Vitamin A Transporters in Visual Function: A Mini Review on Membrane Receptors for Dietary Vitamin A Uptake, Storage, and Transport to the Eye (2021) · cites this paper as [58]
The Abstract says RPE65 mutations cause LCA, describes LCA as a leading cause of inherited childhood blindness, and reports loss of isomerase activity in a mutant. However, it says RPE65 produces 11-cis-retinol from all-trans retinyl esters, not directly from all-trans retinol as the claim states. (LLM, conf=0.90)
Experimental — accuracy not yet measuredRetinitis pigmentosa can be caused by dysfunctional LRAT, mutant RPE65, and P23H mutant opsin.
“Retinitis pigmentosa can be caused by dysfunctional LRAT, mutant RPE65, and P23H mutant opsin [52,58,59].”
From Vitamin A Transporters in Visual Function: A Mini Review on Membrane Receptors for Dietary Vitamin A Uptake, Storage, and Transport to the Eye (2021) · cites this paper as [58]
The paper states that RPE65 mutations can cause retinitis pigmentosa (section labeled Abstract; page not provided). It links LRAT mutations to Leber congenital amaurosis, not specifically retinitis pigmentosa, and the passages found do not address P23H mutant opsin. Thus, it supports only the RPE65 part of the attributed sentence. (LLM, conf=0.88)
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- Authors
- Bereta, G., Kiser, P. D., Golczak, M., Sun, W., Heon, E., Saperstein, D. A., & Palczewski, K.
- Affiliations
- University of Toronto (CA)
- Department of Pharmacology, School of Medicine, Case Western Reserve University, Cleveland, Ohio 44106-4965, Department of Ophthalmology, University of Washington, Seattle, Washington 98195, Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada, and Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
- Corresponding author
- Palczewski, Krzysztof
- Venue
- Biochemistry
- Publisher
- American Chemical Society (ACS)
- Published
- 2008-08-23
- Volume
- 47
- Issue
- 37
- Pages
- 9856-9865
- ISSN
- 0006-2960 (ISSN-L)
- 1520-4995
- PMC
- PMC2610467
- OpenAlex
- W2013788347
- Cited by
- 36
- References
- 50
- Citations by year
- 2025: 3 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 3 · 2019: 3 · 2018: 1 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 2 · 2013: 2 · 2012: 1
- FWCI
- 1.51
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Biochemistry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Eye Institute (EY009339, T32EY007157, R01EY009339)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Photoreceptor and optogenetics research
- Keywords
- RPE65, RPE65 mutations, Leber congenital amaurosis, autosomal recessive retinitis pigmentosa, cone-rod dystrophy, novel mutations, protein instability, isomerase activity, homology model, retinal disease
- MeSH terms
- Retinoid Isomerohydrolase, Animals, Carrier Proteins, Cells, Cultured, Exons, Eye Proteins, Models, Molecular, Mutation, Oxygenases, Promoter Regions, Genetic, Retinal Diseases, Retinitis Pigmentosa, Retinoids, cis-trans-Isomerases, NIH 3T3 Cells, Green Fluorescent Proteins, Mice
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