The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 35271391.
- Also identified by DOI 10.1073/pnas.2115202119 and PMC identifier 8931212.
- Licence recorded as CC BY-NC-ND.
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Abstract
SignificanceIn humans, genetic mutations in the retinal pigment epithelium (RPE) 65 are associated with blinding diseases, for which there is no effective therapy alleviating progressive retinal degeneration in affected patients. Our findings uncovered that the increased free opsin caused by enhancing the ambient light intensity increased retinal activation, and when compounded with the RPE visual cycle dysfunction caused by the heterozygous D477G mutation and aggregation, led to the onset of retinal degeneration.
Medical subject headings
- Eye Proteins
- Genes, Dominant
- Retinal Dystrophies
- cis-trans-Isomerases