Researchers have developed animal models of blindness and study them by means of protein biochemistry techniques, histological light and electron microscopy analysis, and functional analysis with electroretinograms. The objective is to determine the cause of retinal degeneration and its signalling pathways in order to find novel therapeutic targets.
On one hand, the project is focused on characterising the relevance of mutations in GUCA1A and GUCA1B for cell function. The mutations are associated with autosomal dominant dystrophies and retinitis pigmentosa. These genes codify proteins which are essential for the first phase of visual perception in photoreceptor cells of the retina. The study aims at understanding how these mutations cause toxicity in the cell.
On the other hand, the project is centred on developing an innovative methodology to create genetically-modified mice that enables to generate animal models of blindness in a quicker and more affordable way. The technique consists on introducing genetically modified DNA in mouse spermatogonial stem cells by means of electroporation in order to obtain genetically-modified progenies in a shorter period of time.
To have mouse models means an advance to study in vivo the basis of blindness because the complexity of the visual system and the specialization of retina’s photoreceptor cells make difficult to reproduce them in cell culture. Blindness mutations occur in many genes so the development of animal models will speed up the study of pathogenicity bases and the search for novel therapeutic strategies.
Universitat de Barcelona