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Transl Vis Sci TechnolJuly 20244 citations

Characterization of Ocular Morphology in Col4a3-/- Mice as a Murine Model for Alport Syndrome.

Wang Yuwei, Zhu Ruilin, Zhao Liang, Wang Fang, Zhang Yanqin, Liu Shiguang, Ding Jie, Yang Liu


AI Summary

Col4a3-/- mice, a model for Alport syndrome, showed ocular structural anomalies like thinner lens capsules and retina, and abnormal basement membranes, mirroring human disease and offering a platform for studying AS mechanisms and treatments.

Abstract

Purpose

The purpose of this study was to investigate the ocular morphological characteristics of Col4a3-/- mice as a model of Alport syndrome (AS) and the potential pathogenesis.

Methods

The expression of collagen IV at 8, 12, and 21 weeks of age was evaluated by immunohistochemistry in wild-type (WT) and Col4a3-/- mice. Hematoxylin and eosin (H&E) staining and thickness measurements were performed to assess the thickness of anterior lens capsule and retina. Ultrastructure analysis of corneal epithelial basement membrane, anterior lens capsule, internal limiting membrane (ILM), and retinal pigment epithelium (RPE) basement membrane was performed using transmission electron microscopy. Finally, Müller cell activation was evaluated by glial fibrillary acidic protein (GFAP) expression.

Results

Collagen IV was downregulated in the corneal epithelial basement membrane and ILM of Col4a3-/- mice. The hemidesmosomes of Col4a3-/- mice corneal epithelium became flat and less electron-dense than those of the WT group. Compared with those of the WT mice, the anterior lens capsules of Col4a3-/- mice were thinner. Abnormal structure was detected at the ILM Col4a3-/- mice, and the basal folds of the RPE basement membrane in Col4a3-/- mice were thicker and shorter. The retinas of Col4a3-/- mice were thinner than those of WT mice, especially within 1000 µm away from the optic nerve. GFAP expression enhanced in each age group of Col4a3-/- mice.

Conclusions

Our results suggested that Col4a3-/- mice exhibit ocular anomalies similar to patients with AS. Additionally, Müller cells may be involved in AS retinal anomalies.

Translational relevance: This animal model could provide an opportunity to understand the underlying mechanisms of AS ocular disorders and to investigate potential new treatments.


MeSH Terms

AnimalsNephritis, HereditaryCollagen Type IVDisease Models, AnimalMiceBasement MembraneMice, KnockoutRetinal Pigment EpitheliumMicroscopy, Electron, TransmissionMice, Inbred C57BLLens Capsule, CrystallineEpithelium, CornealGlial Fibrillary Acidic ProteinRetinaAutoantigensEpendymoglial CellsImmunohistochemistryMale

Key Concepts4

Collagen IV expression was downregulated in the corneal epithelial basement membrane and internal limiting membrane (ILM) of Col4a3-/- mice, a model for Alport syndrome, at 8, 12, and 21 weeks of age.

MechanismBasic ScienceBasic science studyn=Col4a3-/- mice and wild-type mice at …Ch2Ch9

The anterior lens capsules of Col4a3-/- mice, a model for Alport syndrome, were thinner compared to those of wild-type mice.

DiagnosisBasic ScienceBasic science studyn=Col4a3-/- mice and wild-type miceCh19

The retinas of Col4a3-/- mice, a model for Alport syndrome, were thinner than those of wild-type mice, especially within 1000 µm away from the optic nerve.

DiagnosisBasic ScienceBasic science studyn=Col4a3-/- mice and wild-type miceCh5

Müller cell activation, indicated by enhanced glial fibrillary acidic protein (GFAP) expression, was observed in each age group of Col4a3-/- mice, a model for Alport syndrome, suggesting their involvement in Alport syndrome retinal anomalies.

MechanismBasic ScienceBasic science studyn=Col4a3-/- mice at 8, 12, and 21 weeks…Ch2Ch5

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