The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
Proc Natl Acad Sci U S A
; 119(11): e2115202119, 2022 03 15.
Article
en En
| MEDLINE
| ID: mdl-35271391
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cis-trans-Isomerasas
/
Proteínas del Ojo
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Distrofias Retinianas
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Genes Dominantes
Límite:
Animals
Idioma:
En
Año:
2022
Tipo del documento:
Article