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Multiple Retinal Anomalies in Wfs1-Deficient Mice
Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal thickness in WFS patients decreases with the progression of the disea...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555979/ https://www.ncbi.nlm.nih.gov/pubmed/32824898 http://dx.doi.org/10.3390/diagnostics10090607 |
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author | Waszczykowska, Arleta Zmysłowska, Agnieszka Braun, Marcin Ivask, Marilin Koks, Sulev Jurowski, Piotr Młynarski, Wojciech |
author_facet | Waszczykowska, Arleta Zmysłowska, Agnieszka Braun, Marcin Ivask, Marilin Koks, Sulev Jurowski, Piotr Młynarski, Wojciech |
author_sort | Waszczykowska, Arleta |
collection | PubMed |
description | Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal thickness in WFS patients decreases with the progression of the disease. Aim: To investigate retinal thickness and wolframin expression disorders in Wolfram syndrome 1 gene knockout (Wfs1KO) mice compared to their wild-type (WT) littermates. Materials and methods: Both bulbs with optic nerves of three mice Wfs1WT and three Wfs1KO were taken for the histopathological examination. A strain of knockout mice with mutation in exon 8 was used. Results: No expression of wolframin protein in the retina and neurodegeneration of the optic nerve of Wfs1KO mice as compared among Wfs1WT mice was observed. The mean central retinal thickness was thinner and the retinal thickness/longitudinal diameter ratio was significantly lower in hte Wfs1KO as compared to the Wfs1WT mice. In four (67%) eyeballs of Wfs1KO mice, intra-retinal neovessels were observed. Conclusions: Wfs1KO mice retina with mutation in exon 8 present similar clinical features as patients with WFS in the form of reduced retinal thickness and neurodegeneration of the optic nerve. The presence of proliferative retinopathy observed in Wfs1KO mice requires further investigation. |
format | Online Article Text |
id | pubmed-7555979 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-75559792020-10-19 Multiple Retinal Anomalies in Wfs1-Deficient Mice Waszczykowska, Arleta Zmysłowska, Agnieszka Braun, Marcin Ivask, Marilin Koks, Sulev Jurowski, Piotr Młynarski, Wojciech Diagnostics (Basel) Article Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal thickness in WFS patients decreases with the progression of the disease. Aim: To investigate retinal thickness and wolframin expression disorders in Wolfram syndrome 1 gene knockout (Wfs1KO) mice compared to their wild-type (WT) littermates. Materials and methods: Both bulbs with optic nerves of three mice Wfs1WT and three Wfs1KO were taken for the histopathological examination. A strain of knockout mice with mutation in exon 8 was used. Results: No expression of wolframin protein in the retina and neurodegeneration of the optic nerve of Wfs1KO mice as compared among Wfs1WT mice was observed. The mean central retinal thickness was thinner and the retinal thickness/longitudinal diameter ratio was significantly lower in hte Wfs1KO as compared to the Wfs1WT mice. In four (67%) eyeballs of Wfs1KO mice, intra-retinal neovessels were observed. Conclusions: Wfs1KO mice retina with mutation in exon 8 present similar clinical features as patients with WFS in the form of reduced retinal thickness and neurodegeneration of the optic nerve. The presence of proliferative retinopathy observed in Wfs1KO mice requires further investigation. MDPI 2020-08-19 /pmc/articles/PMC7555979/ /pubmed/32824898 http://dx.doi.org/10.3390/diagnostics10090607 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Waszczykowska, Arleta Zmysłowska, Agnieszka Braun, Marcin Ivask, Marilin Koks, Sulev Jurowski, Piotr Młynarski, Wojciech Multiple Retinal Anomalies in Wfs1-Deficient Mice |
title | Multiple Retinal Anomalies in Wfs1-Deficient Mice |
title_full | Multiple Retinal Anomalies in Wfs1-Deficient Mice |
title_fullStr | Multiple Retinal Anomalies in Wfs1-Deficient Mice |
title_full_unstemmed | Multiple Retinal Anomalies in Wfs1-Deficient Mice |
title_short | Multiple Retinal Anomalies in Wfs1-Deficient Mice |
title_sort | multiple retinal anomalies in wfs1-deficient mice |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555979/ https://www.ncbi.nlm.nih.gov/pubmed/32824898 http://dx.doi.org/10.3390/diagnostics10090607 |
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