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Projects. Life and Earth Sciences

Study of the molecular bases of hereditary blindness

Lead Researcher:
Ana Méndez Zunzunegui

Research Centre:
Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.

Abstract: 
Ana Méndez ZunzuneguiHereditary retinal dystrophies are disorders which are highly heterogeneous in clinical and genetic terms, and there is currently no cure for them. They affect 15,000 people in Spain, according to the FARPE. To date up to 150 genes have been described which cause retinal dystrophy, illustrating the difficulty of studying these disorders. From a clinical point of view, the challenge is to design treatments to halt retinal degeneration and restore visual function. For this, it is necessary to discover more about the molecular and cellular processes which are altered by mutations in different genes. This project centres on studying the effect in the cell of loss of function mutations in retGC and RD3 (genes GUCY2D and RD3, associated with Leber Congenital Amaurosis, the most severe form of hereditary blindness), and functional gain mutations in proteins GCAP1 and GCAP2 (genes GUCA1A and GUCA1B associated with cone and rod dystrophies). These proteins form the RD3/retGC/GCAPs complex, which is responsible for cGMP synthesis in photoreceptors. Given that cGMP is the second messenger in phototransduction, this complex is absolutely indispensable for visual function. The project will cover the study of the organisation, traffic and different aspects of the in vivo regulation of this complex. This project also aims to develop new murine genetic techniques based on DNA electroporation in vivo to make it possible to accelerate the study of gene function in the retina. Given the complexity of the visual system and the high degree of specialisation of the cone and rod photoreceptor cells and the difficulty of reproducing them in a culture, the development of murine models is extremely useful in gene function studies and when determining the molecular bases of hereditary retinal dystrophies.



Ana Méndez Zunzunegui

She holds a Chemistry degree and doctorate in Science (Biochemistry and Molecular Biology) from the Universidad Autónoma de Madrid (UAM, 1995). She made her postdoctoral visit and then remained as an "associate researcher" in the group of Dr. Jeannie Chen in the Keck School of Medicine of South California University (Los Angeles, USA), from 1996 to 2007. AMZ joined the Instituto de Investigaciones Biomédicas de Bellvitge (IDIBELL) as Ramón y Cajal researcher in 2007, where she leads a group investigating the retina. She is currently professor of the Physiology Department II (University of Barcelona) and teaches in Medicine and Biomedicine degree courses. Since 1996 her research has centred on retinal photoreceptor cell response to light: the signalling processes involved, their regulation, and how genetic faults at this level lead to different forms of hereditary blindness. She has made significant contributions in this field, having published in journals such as Science, Neuron, PNAS, PLoS Genetics and the Journal of Neuroscience. Her contribution to the science is reflected by 23 publications and many communications to international congresses, as well as directing doctoral theses and studies for Master's degree. Since she joined the Idibell-UB, AMZ has been and is the chief researcher in 5 competitive research projects.


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