The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation-Reference-Cited by-同舟云学术

The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation

Published:2022-03-10 Issue:11 Volume:119 Page:
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proc. Natl. Acad. Sci. U.S.A.

Author:

Wu Wenjing¹^ORCID,Takahashi Yusuke¹²,Shin Henry Younghwa¹,Ma Xiang¹,Moiseyev Gennadiy¹^ORCID,Ma Jian-Xing¹²

Affiliation:

1. Department of Physiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104

2. Harold Hamm Diabetes Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104

Abstract

Significance In 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.

Funder

National eye

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Link

https://pnas.org/doi/pdf/10.1073/pnas.2115202119

Reference65 articles.

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