Journal article
Multiple Retinal Anomalies in Wfs1-Deficient Mice
Diagnostics, Vol.10(9), Art. 607
2020
Abstract
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.
Details
- Title
- Multiple Retinal Anomalies in Wfs1-Deficient Mice
- Authors/Creators
- A. Waszczykowska (Author/Creator) - University of ŁódźA. Zmysłowska (Author/Creator) - Medical University of LodzM. Braun (Author/Creator) - Medical University of LodzM. Ivask (Author/Creator) - University of TartuS. Kõks (Author/Creator) - University of TartuP. Jurowski (Author/Creator) - University of ŁódźW. Młynarski (Author/Creator) - University of Łódź
- Publication Details
- Diagnostics, Vol.10(9), Art. 607
- Publisher
- MDPI
- Identifiers
- 991005540581707891
- Copyright
- © 2020 MDPI
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Citation topics
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- 1.25 Molecular & Cell Biology - Cancer, Autophagy & Apoptosis
- 1.25.1406 Unfolded Protein Response
- Web Of Science research areas
- Ophthalmology
- ESI research areas
- Clinical Medicine