Researchers find the protein that provokes cell death and causes a type of inherited blindness

Microscope image of photoreceptor cells.
Microscope image of photoreceptor cells.
Research
(17/02/2020)

Leberʼs Congenital Amaurosis (LCA12) is one of the most severe inherited blindness types, which appears in very early ages. The study of an animal model enabled researchers to detect that GCAP proteins are mediators of the cell death in this pathology, and that removing them delays the emergence of the disease. This study, led by the team of Ana Méndez, expert from the Faculty of Medicine and Health Sciences and member of the Bellvitge Biomedical Research Institute (IDIBELL), reveals a damaging mechanism on which they can act directly with therapy so as to delay the retinal deterioration in LCA12, and potentially, in other similar blindness types.

Microscope image of photoreceptor cells.
Microscope image of photoreceptor cells.
Research
17/02/2020

Leberʼs Congenital Amaurosis (LCA12) is one of the most severe inherited blindness types, which appears in very early ages. The study of an animal model enabled researchers to detect that GCAP proteins are mediators of the cell death in this pathology, and that removing them delays the emergence of the disease. This study, led by the team of Ana Méndez, expert from the Faculty of Medicine and Health Sciences and member of the Bellvitge Biomedical Research Institute (IDIBELL), reveals a damaging mechanism on which they can act directly with therapy so as to delay the retinal deterioration in LCA12, and potentially, in other similar blindness types.

LCA12 is a type of light-equivalent disorder, that is, a type of physiological dystrophy that leads to the permanent agitation of photoreceptor cells of the retina, which provokes cell death and therefore, vision loss. The excitability of these cells is controlled by the arrival of ions or the blocking of their journey through the cell surface channels. In light-equivalent disorders, these channels are always closed, which results in a chronic decrease of calcium in the cells.

In this study, published in the journal Cell Death and Disease, researchers show that removing the GCAP calcium sensors in animal models with LCA12 delays the emergence of blindness. The death of photoreceptor cells could be prevented by removing the protein that detects low levels of calcium.

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