Developmental abnormalities in the cornea of a mouse model for Marfan syndrome

Feneck, Eleanor M., Souza, Rodrigo B., Lewis, Philip N. ORCID: https://orcid.org/0000-0002-3353-0708, Hayes, Sally ORCID: https://orcid.org/0000-0001-8550-0108, Pereira, Lygia V. and Meek, Keith M. ORCID: https://orcid.org/0000-0002-9948-7538 2020. Developmental abnormalities in the cornea of a mouse model for Marfan syndrome. Experimental Eye Research 194 , 108001. 10.1016/j.exer.2020.108001

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Abstract

Elastic fibres provide tissues with elasticity and flexibility. In the healthy human cornea, elastic fibres are limited to the posterior region of the peripheral stroma, but their specific functional role remains elusive. Here, we examine the physical and structural characteristics of the cornea during development in the mgΔloxPneo dominant-negative mouse model for Marfan syndrome, in which the physiological extracellular matrix of its elastic-fibre rich tissues is disrupted by the presence of a dysfunctional fibrillin-1 glycoprotein. Optical coherence tomography demonstrated a reduced corneal thickness in the mutant compared to wild type mice from embryonic day 16.5 until adulthood. X-ray scattering and electron microscopy revealed a disruption to both the elastic fibre and collagen fibril ultrastructure in the knockout mice, as well as abnormally low levels of the proteoglycan decorin. It is suggested that these alterations might be a result of increased transforming growth factor beta signalling. To conclude, this study has demonstrated corneal structure and ultrastructure to be altered when fibrillin-1 is disrupted and has provided insights into the role of fibrillin-1 in developing a functional cornea.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Optometry and Vision Sciences
Publisher:	Elsevier
ISSN:	0014-4835
Funders:	MRC
Date of First Compliant Deposit:	3 September 2020
Date of Acceptance:	9 March 2020
Last Modified:	03 May 2023 15:44
URI:	https://orca.cardiff.ac.uk/id/eprint/134650

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