Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-01-31

AUTHORS

Alix Trouillet, Elisabeth Dubus, Julie Dégardin, Amrit Estivalet, Ivana Ivkovic, David Godefroy, Diego García-Ayuso, Manuel Simonutti, Iman Sahly, José A. Sahel, Aziz El-Amraoui, Christine Petit, Serge Picaud

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. More... »

PAGES

1968

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41598-018-20171-0

DOI

http://dx.doi.org/10.1038/s41598-018-20171-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100658014

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29386551


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32 schema:description 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<sup>-/-</sup> and Ush1c<sup>-/-</sup> 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.
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40 USH1 proteins
41 USH1 siblings
42 USH1C
43 Usher syndrome type 1
44 absence
45 albino mice
46 animals
47 antioxidant treatment
48 antioxidants
49 apoptosis
50 blindness
51 blindness prevention
52 cause
53 clear evidence
54 clinical heterogeneity
55 conditions
56 cone degeneration
57 cone photoreceptors
58 darkness
59 deafness
60 deficits
61 degeneration
62 development
63 development of treatments
64 disorders
65 dysfunctional cone photoreceptors
66 evidence
67 eye disorders
68 form
69 genes
70 gliosis
71 hearing deficit
72 heterogeneity
73 high clinical heterogeneity
74 housing conditions
75 humans
76 involvement
77 key involvement
78 knockout animals
79 lack
80 loss
81 major cause
82 mice
83 mutant mice
84 normal housing conditions
85 normal photoreceptors
86 oxidative stress
87 photoreceptor apoptosis
88 photoreceptors
89 pigmentosa
90 potential target
91 prevention
92 primary degeneration
93 protein
94 retinal degeneration
95 retinal gliosis
96 retinitis pigmentosa
97 rod loss
98 secondary cone degeneration
99 siblings
100 stress
101 syndrome type 1
102 target
103 treatment
104 type 1
105 typical form
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