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Retinal defects in mice lacking the autism-associated gene Engrailed-2
Xuwen Zhang1, Ilaria Piano2, Andrea Messina3
1Department of Cellular, Computational, and Integrative Biology (CIBIO), University of Trento, Trento, Italy.
Neuroscience
|April 14, 2019
Summary
Autism spectrum disorder (ASD) is linked to visual processing issues. Engrailed 2 knockout mice, an ASD model, show retinal anatomical and functional defects, impacting visual system development.
Area of Science:
- Neuroscience
- Genetics
- Ophthalmology
Background:
- Autism spectrum disorder (ASD) is associated with visual processing deficits.
- Previous studies indicate visual cortex and retinal abnormalities in ASD-associated gene mutation mouse models.
Purpose of the Study:
- To investigate the retinal anatomy and function in adult Engrailed 2 knockout (En2-/-) mice, a model relevant to ASD.
- To determine the role of En2 in retinal development and function.
Main Methods:
- Immunohistochemistry was used to analyze cell populations in En2-/- retinas.
- Quantification of specific cell markers including calbindin, Brn3a, rhodopsin, Pcp2, and PKCα.
- Electroretinography (ERG) was performed to assess retinal function.
Main Results:
- En2 expression was observed in all three nuclear layers of the adult retina.
- En2-/- retinas exhibited a decrease in horizontal cells and an increase in amacrine/ganglion cells.
- Photoreceptor and bipolar cell markers were reduced, and ERG recordings showed diminished a-wave and b-wave amplitudes in En2-/- mice.
Conclusions:
- Engrailed 2 plays a crucial role in retinal development and function.
- En2 deficiency leads to significant anatomical and functional deficits in the retina of this ASD mouse model.
- These findings highlight the retina as a potential site for visual abnormalities in ASD.
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