Trouillet, A;
Dubus, E;
Dégardin, J;
Estivalet, A;
Ivkovic, I;
Godefroy, D;
García-Ayuso, D;
... Picaud, S; + view all
(2018)
Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.
Scientific Reports
, 8
, Article 1968. 10.1038/s41598-018-20171-0.
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Abstract
Usher syndrome type 1 (USH1) is a major cause of inherited deafness and blindness in humans. The eye disorder is often referred to as retinitis pigmentosa, which is characterized by a secondary cone degeneration following the rod loss. The development of treatments to prevent retinal degeneration has been hampered by the lack of clear evidence for retinal degeneration in mutant mice deficient for the Ush1 genes, which instead faithfully mimic the hearing deficit. We show that, under normal housing conditions, Ush1g-/-and Ush1c-/-albino mice have dysfunctional cone photoreceptors whereas pigmented knockout animals have normal photoreceptors. The key involvement of oxidative stress in photoreceptor apoptosis and the ensued retinal gliosis were further confirmed by their prevention when the mutant mice are reared under darkness and/or supplemented with antioxidants. The primary degeneration of cone photoreceptors contrasts with the typical forms of retinitis pigmentosa. Altogether, we propose that oxidative stress probably accounts for the high clinical heterogeneity among USH1 siblings, which also unveils potential targets for blindness prevention.
| Type: | Article |
|---|---|
| Title: | Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41598-018-20171-0 |
| Publisher version: | http://dx.doi.org/10.1038/s41598-018-20171-0 |
| Language: | English |
| Additional information: | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10053700 |
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